{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T20:33:12Z","timestamp":1788294792275,"version":"build-2803163510"},"reference-count":310,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:p>The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are<jats:italic>GH1<\/jats:italic>and<jats:italic>GHRHR<\/jats:italic>defects, but several novel causes have recently been found, such as<jats:italic>GHSR<\/jats:italic>,<jats:italic>RNPC3<\/jats:italic>, and<jats:italic>IFT172<\/jats:italic>mutations. Besides well-defined causes of GH insensitivity (<jats:italic>GHR<\/jats:italic>,<jats:italic>STAT5B<\/jats:italic>,<jats:italic>IGFALS<\/jats:italic>,<jats:italic>IGF1<\/jats:italic>defects), disorders of NF\u03baB signalling,<jats:italic>STAT3<\/jats:italic>and<jats:italic>IGF2<\/jats:italic>have recently been discovered. Heterozygous<jats:italic>IGF1R<\/jats:italic>defects are a relatively frequent cause of prenatal and postnatal growth retardation.<jats:italic>TRHA<\/jats:italic>mutations cause a syndromic form of short stature with elevated T<jats:sub>3<\/jats:sub>\/T<jats:sub>4<\/jats:sub>ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP\/IHH, and CNP\/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. Heterozygous<jats:italic>NPR2<\/jats:italic>or<jats:italic>SHOX<\/jats:italic>defects may be found in \u223c3% of short children, and also rasopathies (e.g., Noonan syndrome) can be found in children without clear syndromic appearance. Numerous other syndromes associated with short stature are caused by genetic defects in fundamental cellular processes, chromosomal abnormalities, CNVs, and imprinting disorders.<\/jats:p>","DOI":"10.1530\/eje-15-0937","type":"journal-article","created":{"date-parts":[[2015,11,18]],"date-time":"2015-11-18T02:11:18Z","timestamp":1447812678000},"page":"R145-R173","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":136,"title":["MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature"],"prefix":"10.1093","volume":"174","author":[{"given":"Jan M","family":"Wit","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilma","family":"Oostdijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Losekoot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermine A","family":"van Duyvenvoorde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia A L","family":"Ruivenkamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarina G","family":"Kant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"key":"2016022218335308000_174.4.R145.1","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1159\/000330406","article-title":"Molecular karyotyping: from microscope to SNP arrays","volume":"76","author":"Gijsbers","year":"2011","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"2016022218335308000_174.4.R145.2","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1136\/archdischild-2014-306022","article-title":"How to use\u2026 microarray comparative genomic hybridisation to investigate developmental disorders","volume":"100","author":"Kharbanda","year":"2015","journal-title":"Archives of Disease in Childhood. Education and Practice Edition"},{"key":"2016022218335308000_174.4.R145.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1306555"},{"key":"2016022218335308000_174.4.R145.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1312543"},{"key":"2016022218335308000_174.4.R145.5","doi-asserted-by":"crossref","first-page":"3080","DOI":"10.1210\/jc.2014-1506","article-title":"Genetic evaluation of short stature","volume":"99","author":"Dauber","year":"2014","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.6","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1159\/000360857","article-title":"Whole exome sequencing to identify genetic causes of short stature","volume":"82","author":"Guo","year":"2014","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"2016022218335308000_174.4.R145.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3097"},{"key":"2016022218335308000_174.4.R145.8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds347"},{"key":"2016022218335308000_174.4.R145.9","doi-asserted-by":"publisher","DOI":"10.1530\/JME-14-0022"},{"key":"2016022218335308000_174.4.R145.10","doi-asserted-by":"publisher","DOI":"10.1159\/000073226"},{"key":"2016022218335308000_174.4.R145.11","doi-asserted-by":"publisher","DOI":"10.1159\/000095161"},{"issue":"Suppl 2","key":"2016022218335308000_174.4.R145.12","first-page":"1","article-title":"ESPE classification of paediatric endocrine diagnoses","volume":"68","author":"Wit","year":"2007","journal-title":"Hormone Research"},{"key":"2016022218335308000_174.4.R145.13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.beem.2010.06.007","article-title":"Genetic evaluation of short stature","volume":"25","author":"Wit","year":"2011","journal-title":"Best Practice & Research. Clinical Endocrinology & Metabolism"},{"key":"2016022218335308000_174.4.R145.14","doi-asserted-by":"crossref","unstructured":"Mortier GR, Graham JM Jr & Rimoin DL. Short stature syndromes. In Growth Disorders, ch. 17, 2nd edn, pp 259\u2013280. Eds CJH Kelnar, MO Savage, P Saenger & CT Cowell. London, UK: Hodder Arnold, 2007","DOI":"10.1201\/b13275-21"},{"key":"2016022218335308000_174.4.R145.15","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1097\/GIM.0b013e3181a7e8f8","article-title":"ACMG practice guideline: genetic evaluation of short stature","volume":"11","author":"Seaver","year":"2009","journal-title":"Genetics in Medicine"},{"key":"2016022218335308000_174.4.R145.16","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/nrendo.2012.251","article-title":"Height matters-from monogenic disorders to normal variation","volume":"9","author":"Durand","year":"2013","journal-title":"Nature Reviews. Endocrinology"},{"key":"2016022218335308000_174.4.R145.17","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1038\/nrendo.2015.165","article-title":"Short and tall stature: a new paradigm emerges","volume":"11","author":"Baron","year":"2015","journal-title":"Nature Reviews. Endocrinology"},{"key":"2016022218335308000_174.4.R145.18","doi-asserted-by":"publisher","DOI":"10.1101\/gad.169037"},{"key":"2016022218335308000_174.4.R145.19","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2017"},{"key":"2016022218335308000_174.4.R145.20","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1016\/j.ghir.2005.06.014","article-title":"The molecular basis of idiopathic short stature","volume":"15","author":"Rosenfeld","year":"2005","journal-title":"Growth Hormone & IGF Research"},{"key":"2016022218335308000_174.4.R145.21","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1159\/000355543","article-title":"A database and website for molecular defects of the GH\u2013IGF axis: www.growthgenetics.com","volume":"80","author":"Rosenfeld","year":"2013","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"2016022218335308000_174.4.R145.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2009.08.057"},{"key":"2016022218335308000_174.4.R145.23","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.10.014"},{"key":"2016022218335308000_174.4.R145.24","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.beem.2010.06.008","article-title":"Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond","volume":"25","author":"McCabe","year":"2011","journal-title":"Best Practice & Research. Clinical Endocrinology & Metabolism"},{"key":"2016022218335308000_174.4.R145.25","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2453"},{"key":"2016022218335308000_174.4.R145.26","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-2743"},{"key":"2016022218335308000_174.4.R145.27","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1111\/pde.12220","article-title":"Netherton syndrome associated with growth hormone deficiency","volume":"31","author":"Aydin","year":"2014","journal-title":"Pediatric Dermatology"},{"key":"2016022218335308000_174.4.R145.28","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2783"},{"key":"2016022218335308000_174.4.R145.29","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1247"},{"key":"2016022218335308000_174.4.R145.30","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1111\/cen.12706","article-title":"Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism","volume":"82","author":"Fritez","year":"2015","journal-title":"Clinical Endocrinology"},{"key":"2016022218335308000_174.4.R145.31","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(94)00457-9"},{"key":"2016022218335308000_174.4.R145.32","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32832d06f0"},{"key":"2016022218335308000_174.4.R145.33","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/emmm.201303573","article-title":"Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency","volume":"6","author":"Argente","year":"2014","journal-title":"EMBO Molecular Medicine"},{"key":"2016022218335308000_174.4.R145.34","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1210\/jc.2014-3852","article-title":"A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations","volume":"100","author":"Lucas-Herald","year":"2015","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.35","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1111\/cen.12180","article-title":"Alstrom syndrome is associated with short stature and reduced GH reserve","volume":"79","author":"Romano","year":"2013","journal-title":"Clinical Endocrinology"},{"key":"2016022218335308000_174.4.R145.36","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s12881-015-0212-z","article-title":"A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review","volume":"16","author":"Stagi","year":"2015","journal-title":"BMC Medical Genetics"},{"key":"2016022218335308000_174.4.R145.37","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1003"},{"key":"2016022218335308000_174.4.R145.38","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1515\/jpem-2014-0315","article-title":"Growth hormone deficiency in a patient with mitochondrial disease","volume":"28","author":"Rocha","year":"2015","journal-title":"Journal of Pediatric Endocrinology & Metabolism"},{"key":"2016022218335308000_174.4.R145.39","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1159\/000341739","article-title":"Spectrum of insulin-like growth factor deficiency","volume":"23","author":"Wit","year":"2012","journal-title":"Endocrine Development"},{"key":"2016022218335308000_174.4.R145.40","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1327"},{"key":"2016022218335308000_174.4.R145.41","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1570"},{"key":"2016022218335308000_174.4.R145.42","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1530\/EJE-11-0168","article-title":"Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty","volume":"165","author":"Pugliese-Pires","year":"2011","journal-title":"European Journal of Endocrinology\/European Federation of Endocrine Societies"},{"key":"2016022218335308000_174.4.R145.43","first-page":"152","article-title":"Genetic pituitary dwarfism with high serum concentation of growth hormone \u2013 a new inborn error of metabolism?","volume":"2","author":"Laron","year":"1966","journal-title":"Israel Journal of Medical Sciences"},{"key":"2016022218335308000_174.4.R145.44","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198910123211501"},{"key":"2016022218335308000_174.4.R145.45","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.20.8083"},{"key":"2016022218335308000_174.4.R145.46","doi-asserted-by":"publisher","DOI":"10.1210\/er.2010-0023"},{"key":"2016022218335308000_174.4.R145.47","doi-asserted-by":"crossref","unstructured":"Kurtoglu S Hatipoglu N . Growth hormone insensitivity: diagnostic and therapeutic approaches. Journal of Endocrinological Investigation 2015 In press.","DOI":"10.1007\/s40618-015-0327-2"},{"key":"2016022218335308000_174.4.R145.48","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.21.14791"},{"key":"2016022218335308000_174.4.R145.49","doi-asserted-by":"publisher","DOI":"10.1086\/323266"},{"key":"2016022218335308000_174.4.R145.50","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1527"},{"key":"2016022218335308000_174.4.R145.51","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-13"},{"key":"2016022218335308000_174.4.R145.52","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.2.531"},{"key":"2016022218335308000_174.4.R145.53","doi-asserted-by":"publisher","DOI":"10.1159\/000208801"},{"key":"2016022218335308000_174.4.R145.54","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa022926"},{"key":"2016022218335308000_174.4.R145.55","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.beem.2010.09.003","article-title":"STAT5b deficiency: Lessons from STAT5b gene mutations","volume":"25","author":"Hwa","year":"2011","journal-title":"Best Practice & Research. Clinical Endocrinology & Metabolism"},{"key":"2016022218335308000_174.4.R145.56","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.12.042"},{"key":"2016022218335308000_174.4.R145.57","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0398"},{"key":"2016022218335308000_174.4.R145.58","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa013100"},{"key":"2016022218335308000_174.4.R145.59","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.08.010"},{"key":"2016022218335308000_174.4.R145.60","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1530\/EJE-08-0081","article-title":"Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit","volume":"159","author":"van Duyvenvoorde","year":"2008","journal-title":"European Journal of Endocrinology\/European Federation of Endocrine Societies"},{"key":"2016022218335308000_174.4.R145.61","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1111\/cen.12200","article-title":"A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1)","volume":"79","author":"Hess","year":"2013","journal-title":"Clinical Endocrinology"},{"key":"2016022218335308000_174.4.R145.62","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3718"},{"key":"2016022218335308000_174.4.R145.63","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0489"},{"key":"2016022218335308000_174.4.R145.64","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1159\/000355412","article-title":"Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system","volume":"80","author":"Domene","year":"2013","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"2016022218335308000_174.4.R145.65","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1662"},{"key":"2016022218335308000_174.4.R145.66","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1530\/EJE-11-0774","article-title":"A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF\u03baB activation","volume":"166","author":"Mul","year":"2012","journal-title":"European Journal of Endocrinology\/European Federation of Endocrine Societies"},{"key":"2016022218335308000_174.4.R145.67","doi-asserted-by":"crossref","unstructured":"Wit JM De Luca F . Atypical defects resulting in growth hormone insensitivity. Growth Hormone & IGF Research 2015 In press.","DOI":"10.1016\/j.ghir.2015.11.005"},{"key":"2016022218335308000_174.4.R145.68","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3040"},{"key":"2016022218335308000_174.4.R145.69","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-09-602763"},{"key":"2016022218335308000_174.4.R145.70","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199610313351805"},{"key":"2016022218335308000_174.4.R145.71","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1254"},{"key":"2016022218335308000_174.4.R145.72","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0452"},{"key":"2016022218335308000_174.4.R145.73","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0511"},{"key":"2016022218335308000_174.4.R145.74","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1159\/000337249","article-title":"Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature","volume":"78","author":"Fuqua","year":"2012","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"2016022218335308000_174.4.R145.75","doi-asserted-by":"publisher","DOI":"10.1159\/000342841"},{"key":"2016022218335308000_174.4.R145.76","doi-asserted-by":"crossref","first-page":"E153","DOI":"10.1210\/jc.2013-3106","article-title":"A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency","volume":"99","author":"Batey","year":"2014","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.77","doi-asserted-by":"publisher","DOI":"10.1038\/ng1629"},{"key":"2016022218335308000_174.4.R145.78","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1127"},{"key":"2016022218335308000_174.4.R145.79","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1897"},{"key":"2016022218335308000_174.4.R145.80","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1530\/EJE-11-0964","article-title":"Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver\u2013Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11","volume":"166","author":"Montenegro","year":"2012","journal-title":"European Journal of Endocrinology\/European Federation of Endocrine Societies"},{"key":"2016022218335308000_174.4.R145.81","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.ghir.2014.06.005","article-title":"IGF-I sensitivity in Silver\u2013Russell syndrome with IGF2\/H19 hypomethylation","volume":"24","author":"Iliev","year":"2014","journal-title":"Growth Hormone & IGF Research"},{"key":"2016022218335308000_174.4.R145.82","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1056\/NEJMoa1415227","article-title":"Paternally inherited IGF2 mutation and growth restriction","volume":"373","author":"Begemann","year":"2015","journal-title":"New England Journal of Medicine"},{"key":"2016022218335308000_174.4.R145.83","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-0819"},{"key":"2016022218335308000_174.4.R145.84","unstructured":"Munoz-Calvo MT, Barrios V, Pozo J, Martos-Moreno GA, Hawkings FG, Domene H, Jasper H, Yakar S, Conover CA, Kopchick.JE et al. A new syndrome of short stature, mild microcephaly, skeletal abnormalities and high circulating IGF1, IGFBP3 and ALS associated with a homozygous mutation in the gene for pregnancy-associated plasma protein A2 (PAPP-A2, pappalysin2). Endocrine Society Meeting 2015. Abstract"},{"key":"2016022218335308000_174.4.R145.85","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.beem.2010.09.012","article-title":"IGF1R mutations as cause of SGA","volume":"25","author":"Klammt","year":"2011","journal-title":"Best Practice & Research. Clinical Endocrinology & Metabolism"},{"key":"2016022218335308000_174.4.R145.86","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1502"},{"key":"2016022218335308000_174.4.R145.87","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa010107"},{"key":"2016022218335308000_174.4.R145.88","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-2142"},{"key":"2016022218335308000_174.4.R145.89","doi-asserted-by":"crossref","first-page":"K1","DOI":"10.1530\/EJE-12-0701","article-title":"Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations","volume":"168","author":"Gannage-Yared","year":"2013","journal-title":"European Journal of Endocrinology\/European Federation of Endocrine Societies"},{"key":"2016022218335308000_174.4.R145.90","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1002\/humu.22853","article-title":"A new homozygous IGF1R variant defines a clinically recognizable incomplete dominant form of SHORT syndrome","volume":"36","author":"Prontera","year":"2015","journal-title":"Human Mutation"},{"key":"2016022218335308000_174.4.R145.91","first-page":"472","article-title":"Regulation of IGF1 signaling by microRNAs","volume":"5","author":"Jung","year":"2014","journal-title":"Frontiers in Genetics"},{"key":"2016022218335308000_174.4.R145.92","doi-asserted-by":"publisher","DOI":"10.1007\/BF01955262"},{"key":"2016022218335308000_174.4.R145.93","doi-asserted-by":"crossref","first-page":"E169","DOI":"10.1210\/jc.2013-2619","article-title":"Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and \"apparent\" thyroid dysgenesis","volume":"99","author":"Kuhnen","year":"2014","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.94","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.11.5142"},{"key":"2016022218335308000_174.4.R145.95","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagen.2013.03.018"},{"key":"2016022218335308000_174.4.R145.96","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1159\/000360637","article-title":"Clinical consequences of mutations in thyroid hormone receptor-\u03b11","volume":"3","author":"van Mullem","year":"2014","journal-title":"European Thyroid Journal"},{"key":"2016022218335308000_174.4.R145.97","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1530\/EJE-11-0812","article-title":"Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation","volume":"166","author":"Hamajima","year":"2012","journal-title":"European Journal of Endocrinology\/European Federation of Endocrine Societies"},{"key":"2016022218335308000_174.4.R145.98","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/ng.3166","article-title":"Mutations in the deubiquitinase gene USP8 cause Cushing's disease","volume":"47","author":"Reincke","year":"2015","journal-title":"Nature Genetics"},{"key":"2016022218335308000_174.4.R145.99","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1310359"},{"key":"2016022218335308000_174.4.R145.100","doi-asserted-by":"publisher","DOI":"10.1210\/er.2010-0020"},{"key":"2016022218335308000_174.4.R145.101","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","article-title":"Nosology and classification of genetic skeletal disorders: 2015 revision","volume":"167","author":"Bonafe","year":"2015","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.102","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1159\/000108399","article-title":"Radiographic evaluation of children with growth disorders","volume":"68","author":"Kant","year":"2007","journal-title":"Hormone Research"},{"key":"2016022218335308000_174.4.R145.103","doi-asserted-by":"crossref","first-page":"270","DOI":"10.4274\/jcrpe.v1i6.270","article-title":"Diagnostic use of skeletal survey in suspected skeletal dysplasia","volume":"1","author":"Veeramani","year":"2009","journal-title":"Journal of Clinical Research in Pediatric Endocrinology"},{"key":"2016022218335308000_174.4.R145.104","doi-asserted-by":"crossref","first-page":"163","DOI":"10.4274\/jcrpe.463","article-title":"A review of the principles of radiological assessment of skeletal dysplasias","volume":"3","author":"Alanay","year":"2011","journal-title":"Journal of Clinical Research in Pediatric Endocrinology"},{"key":"2016022218335308000_174.4.R145.105","doi-asserted-by":"crossref","first-page":"98","DOI":"10.2174\/1573396311666150702105152","article-title":"Role of Fibroblast Growth Factor 21 (FGF21) in the regulation of statural growth","volume":"11","author":"Grunwald","year":"2015","journal-title":"Current Pediatric Reviews"},{"key":"2016022218335308000_174.4.R145.106","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21636"},{"key":"2016022218335308000_174.4.R145.107","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.mrrev.2013.11.001","article-title":"The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate","volume":"759","author":"Krejci","year":"2014","journal-title":"Mutation Research. Reviews in Mutation Research"},{"key":"2016022218335308000_174.4.R145.108","doi-asserted-by":"crossref","first-page":"2456","DOI":"10.1002\/ajmg.a.35564","article-title":"New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia","volume":"158A","author":"Song","year":"2012","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.109","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1530\/EJE-14-0945","article-title":"A novel variant of FGFR3 causes proportionate short stature","volume":"172","author":"Kant","year":"2015","journal-title":"European Journal of Endocrinology\/European Federation of Endocrine Societies"},{"key":"2016022218335308000_174.4.R145.110","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1046\/j.1365-2443.2003.00662.x","article-title":"The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a\/JNK signalling pathway","volume":"8","author":"Oishi","year":"2003","journal-title":"Genes to Cells: Devoted to Molecular & Cellular Mechanisms"},{"key":"2016022218335308000_174.4.R145.111","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1417053112"},{"key":"2016022218335308000_174.4.R145.112","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/cge.12401","article-title":"De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype","volume":"87","author":"Roifman","year":"2015","journal-title":"Clinical Genetics"},{"key":"2016022218335308000_174.4.R145.113","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1097\/MCD.0b013e32835c6c8c","article-title":"A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B","volume":"22","author":"Habib","year":"2013","journal-title":"Clinical Dysmorphology"},{"key":"2016022218335308000_174.4.R145.114","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2000.15.6.1045"},{"key":"2016022218335308000_174.4.R145.115","doi-asserted-by":"publisher","DOI":"10.1038\/nature01657"},{"key":"2016022218335308000_174.4.R145.116","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.023"},{"key":"2016022218335308000_174.4.R145.117","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0300"},{"key":"2016022218335308000_174.4.R145.118","doi-asserted-by":"publisher","DOI":"10.1126\/science.7701349"},{"key":"2016022218335308000_174.4.R145.119","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.18"},{"key":"2016022218335308000_174.4.R145.120","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.11.006"},{"key":"2016022218335308000_174.4.R145.121","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1012717"},{"key":"2016022218335308000_174.4.R145.122","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101937"},{"key":"2016022218335308000_174.4.R145.123","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp296"},{"key":"2016022218335308000_174.4.R145.124","doi-asserted-by":"publisher","DOI":"10.1086\/422013"},{"key":"2016022218335308000_174.4.R145.125","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-1949"},{"key":"2016022218335308000_174.4.R145.126","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-2142"},{"key":"2016022218335308000_174.4.R145.127","doi-asserted-by":"crossref","first-page":"E713","DOI":"10.1210\/jc.2013-3525","article-title":"Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature","volume":"99","author":"Amano","year":"2014","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.128","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1159\/000365049","article-title":"Role of the natriuretic peptide system in normal growth and growth disorders","volume":"82","author":"Vasques","year":"2014","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"2016022218335308000_174.4.R145.129","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1002\/humu.22773","article-title":"Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature","volume":"36","author":"Wang","year":"2015","journal-title":"Human Mutation"},{"key":"2016022218335308000_174.4.R145.130","doi-asserted-by":"crossref","first-page":"E1133","DOI":"10.1210\/jc.2015-1612","article-title":"Heterozygous NPR2 mutations cause disproportionate short stature, similar to Leri-Weill dyschondrosteosis","volume":"100","author":"Hisado-Oliva","year":"2015","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.131","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.04.031"},{"key":"2016022218335308000_174.4.R145.132","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.02618"},{"key":"2016022218335308000_174.4.R145.133","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.014"},{"key":"2016022218335308000_174.4.R145.134","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.12.001"},{"key":"2016022218335308000_174.4.R145.135","doi-asserted-by":"crossref","first-page":"E1510","DOI":"10.1210\/jc.2014-1332","article-title":"Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations","volume":"99","author":"Nilsson","year":"2014","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.136","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980806)78:5<468::AID-AJMG13>3.0.CO;2-D"},{"key":"2016022218335308000_174.4.R145.137","doi-asserted-by":"crossref","first-page":"E672","DOI":"10.1210\/jc.2014-3556","article-title":"PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation \u2013 in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations","volume":"100","author":"Oostdijk","year":"2015","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.138","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1159\/000355411","article-title":"The sitting height\/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis","volume":"80","author":"Malaquias","year":"2013","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"2016022218335308000_174.4.R145.139","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.3.1402"},{"key":"2016022218335308000_174.4.R145.140","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030136"},{"key":"2016022218335308000_174.4.R145.141","first-page":"e90","article-title":"Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature","volume":"44","author":"Jorge","year":"2007","journal-title":"Journal of Medical Genetics"},{"key":"2016022218335308000_174.4.R145.142","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1111\/j.1365-2265.2006.02698.x","article-title":"SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability","volume":"66","author":"Jorge","year":"2007","journal-title":"Clinical Endocrinology"},{"key":"2016022218335308000_174.4.R145.143","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000324105","article-title":"Short stature due to SHOX deficiency: genotype, phenotype, and therapy","volume":"75","author":"Binder","year":"2011","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"2016022218335308000_174.4.R145.144","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.067785"},{"key":"2016022218335308000_174.4.R145.145","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.040998"},{"key":"2016022218335308000_174.4.R145.146","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1689"},{"key":"2016022218335308000_174.4.R145.147","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.210"},{"key":"2016022218335308000_174.4.R145.148","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-3460"},{"key":"2016022218335308000_174.4.R145.149","doi-asserted-by":"crossref","first-page":"e35","DOI":"10.7717\/peerj.35","article-title":"Phenotypic characterization of patients with deletions in the 3\u2032-flanking SHOX region","volume":"1","author":"Kant","year":"2013","journal-title":"PeerJ"},{"key":"2016022218335308000_174.4.R145.150","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0451"},{"key":"2016022218335308000_174.4.R145.151","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1515\/JPEM.2010.23.1-2.159","article-title":"Unexpected phenotype in a boy with trisomy of the SHOX gene","volume":"23","author":"Iughetti","year":"2010","journal-title":"Journal of Pediatric Endocrinology & Metabolism"},{"key":"2016022218335308000_174.4.R145.152","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1159\/000338341","article-title":"IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature)","volume":"77","author":"Caliebe","year":"2012","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"2016022218335308000_174.4.R145.153","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1159\/000367712","article-title":"Copy number variants in short children born small for gestational age","volume":"82","author":"Wit","year":"2014","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"2016022218335308000_174.4.R145.154","doi-asserted-by":"publisher","DOI":"10.1038\/nm971"},{"key":"2016022218335308000_174.4.R145.155","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2014.06.025"},{"key":"2016022218335308000_174.4.R145.156","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.05.024"},{"key":"2016022218335308000_174.4.R145.157","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61023-X"},{"key":"2016022218335308000_174.4.R145.158","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1534"},{"key":"2016022218335308000_174.4.R145.159","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1119803109"},{"key":"2016022218335308000_174.4.R145.160","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00646-09"},{"key":"2016022218335308000_174.4.R145.161","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90552-5"},{"key":"2016022218335308000_174.4.R145.162","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/ajmg.a.33199","article-title":"Aarskog\u2013Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene","volume":"152A","author":"Orrico","year":"2010","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.163","doi-asserted-by":"publisher","DOI":"10.1172\/JCI59041"},{"key":"2016022218335308000_174.4.R145.164","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.093419"},{"key":"2016022218335308000_174.4.R145.165","doi-asserted-by":"publisher","DOI":"10.1007\/s00774-011-0273-9"},{"key":"2016022218335308000_174.4.R145.166","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01015.x"},{"key":"2016022218335308000_174.4.R145.167","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201813"},{"key":"2016022218335308000_174.4.R145.168","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9720-9"},{"key":"2016022218335308000_174.4.R145.169","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"2016022218335308000_174.4.R145.170","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1126>3.0.CO;2-8"},{"key":"2016022218335308000_174.4.R145.171","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq265"},{"key":"2016022218335308000_174.4.R145.172","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2217"},{"key":"2016022218335308000_174.4.R145.173","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"2016022218335308000_174.4.R145.174","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.001"},{"key":"2016022218335308000_174.4.R145.175","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/1750-1172-8-63","article-title":"The phenotype of Floating\u2013Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP","volume":"8","author":"Nikkel","year":"2013","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"2016022218335308000_174.4.R145.176","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.007"},{"key":"2016022218335308000_174.4.R145.177","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M403997200"},{"key":"2016022218335308000_174.4.R145.178","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1038\/nature13955","article-title":"TRIM37 is a new histone H2A ubiquitin ligase and breast cancer oncoprotein","volume":"516","author":"Bhatnagar","year":"2014","journal-title":"Nature"},{"key":"2016022218335308000_174.4.R145.179","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-2686"},{"key":"2016022218335308000_174.4.R145.180","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2099"},{"key":"2016022218335308000_174.4.R145.181","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.003"},{"key":"2016022218335308000_174.4.R145.182","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1002\/ajmg.a.37393","article-title":"Two novel POC1A mutations in the Primordial dwarfism, SOFT syndrome: clinical homogeneity but also unreported malformations","volume":"170","author":"Barraza-Garcia","year":"2016","journal-title":"American Journal of Medical Genetics"},{"key":"2016022218335308000_174.4.R145.183","doi-asserted-by":"publisher","DOI":"10.1038\/ng1628"},{"key":"2016022218335308000_174.4.R145.184","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.021"},{"key":"2016022218335308000_174.4.R145.185","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.028"},{"key":"2016022218335308000_174.4.R145.186","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2012.04428.x"},{"key":"2016022218335308000_174.4.R145.187","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2014.03.047"},{"key":"2016022218335308000_174.4.R145.188","doi-asserted-by":"publisher","DOI":"10.1038\/ng.775"},{"key":"2016022218335308000_174.4.R145.189","doi-asserted-by":"publisher","DOI":"10.1038\/ng.777"},{"key":"2016022218335308000_174.4.R145.190","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12499"},{"key":"2016022218335308000_174.4.R145.191","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35681"},{"key":"2016022218335308000_174.4.R145.192","doi-asserted-by":"crossref","first-page":"547986","DOI":"10.1155\/2014\/547986","article-title":"Molecular and cellular basis of autosomal recessive primary microcephaly","volume":"2014","author":"Barbelanne","year":"2014","journal-title":"BioMed Research International"},{"key":"2016022218335308000_174.4.R145.193","doi-asserted-by":"publisher","DOI":"10.1126\/science.1200587"},{"key":"2016022218335308000_174.4.R145.194","doi-asserted-by":"publisher","DOI":"10.1126\/science.1151174"},{"key":"2016022218335308000_174.4.R145.195","doi-asserted-by":"crossref","first-page":"e1002945","DOI":"10.1371\/journal.pgen.1002945","article-title":"Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome","volume":"8","author":"Ogi","year":"2012","journal-title":"PLoS Genetics"},{"key":"2016022218335308000_174.4.R145.196","first-page":"130","article-title":"DNA double strand break repair via non-homologous end-joining","volume":"2","author":"Davis","year":"2013","journal-title":"Translational Cancer Research"},{"key":"2016022218335308000_174.4.R145.197","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22461"},{"key":"2016022218335308000_174.4.R145.198","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.013"},{"key":"2016022218335308000_174.4.R145.199","doi-asserted-by":"crossref","first-page":"E789","DOI":"10.1210\/jc.2015-1098","article-title":"An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome","volume":"100","author":"de Bruin","year":"2015","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.200","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1111\/j.1442-200x.2005.02120.x","article-title":"Chromosomal anomalies in patients with short stature","volume":"47","author":"Moreno-Garcia","year":"2005","journal-title":"Pediatrics International"},{"key":"2016022218335308000_174.4.R145.201","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/j.1399-0004.1990.tb03518.x","article-title":"How necessary is a chromosomal analysis in growth-retarded girls?","volume":"37","author":"Eggert","year":"1990","journal-title":"Clinical Genetics"},{"key":"2016022218335308000_174.4.R145.202","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.107390"},{"key":"2016022218335308000_174.4.R145.203","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1067\/mpd.2002.119172","article-title":"Screening for Turner's syndrome by chromosome analysis of all girls with short stature","volume":"140","author":"Partsch","year":"2002","journal-title":"Journal of Pediatrics"},{"key":"2016022218335308000_174.4.R145.204","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1067\/mpd.2002.119173","article-title":"Screening for Turner's syndrome by chromosome analysis of all girls with short stature","volume":"140","author":"Massa","year":"2002","journal-title":"Journal of Pediatrics"},{"key":"2016022218335308000_174.4.R145.205","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1471-2431-8-21","article-title":"The diagnostic work up of growth failure in secondary health care; an evaluation of consensus guidelines","volume":"8","author":"Grote","year":"2008","journal-title":"BMC Pediatrics"},{"key":"2016022218335308000_174.4.R145.206","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2007.120188"},{"issue":"Suppl 5","key":"2016022218335308000_174.4.R145.207","first-page":"1295","article-title":"The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions","volume":"15","author":"Kirsch","year":"2002","journal-title":"Journal of Pediatric Endocrinology & Metabolism"},{"key":"2016022218335308000_174.4.R145.208","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1406-0."},{"key":"2016022218335308000_174.4.R145.209","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1159\/000281468","article-title":"Children with 45,X\/46,XY karyotype from birth to adult height","volume":"74","author":"Tosson","year":"2010","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"2016022218335308000_174.4.R145.210","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-1388"},{"key":"2016022218335308000_174.4.R145.211","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1002\/ajmg.a.31319","article-title":"Pre- and postnatal findings in trisomy 17 mosaicism","volume":"140","author":"Utermann","year":"2006","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.212","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s12881-015-0165-2","article-title":"EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome","volume":"16","author":"Li","year":"2015","journal-title":"BMC Medical Genetics"},{"key":"2016022218335308000_174.4.R145.213","doi-asserted-by":"crossref","first-page":"3176","DOI":"10.1002\/ajmg.a.36176","article-title":"Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16\u2192p22","volume":"161A","author":"Blassnig-Ezeh","year":"2013","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.214","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1038\/jhg.2015.111","article-title":"Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome","volume":"60","author":"Urquhart","year":"2015","journal-title":"Journal of Human Genetics"},{"key":"2016022218335308000_174.4.R145.215","doi-asserted-by":"crossref","first-page":"e1003365","DOI":"10.1371\/journal.pgen.1003365","article-title":"Rare copy number variants are a common cause of short stature","volume":"9","author":"Zahnleiter","year":"2013","journal-title":"PLoS Genetics"},{"key":"2016022218335308000_174.4.R145.216","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ejhg.2013.203","article-title":"Copy number variants in patients with short stature","volume":"22","author":"van Duyvenvoorde","year":"2014","journal-title":"European Journal of Human Genetics"},{"key":"2016022218335308000_174.4.R145.217","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1530\/EJE-14-0232","article-title":"Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways","volume":"171","author":"Canton","year":"2014","journal-title":"European Journal of Endocrinology\/European Federation of Endocrine Societies"},{"key":"2016022218335308000_174.4.R145.218","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.014"},{"key":"2016022218335308000_174.4.R145.219","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0354"},{"key":"2016022218335308000_174.4.R145.220","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp435"},{"key":"2016022218335308000_174.4.R145.221","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2010.190165"},{"key":"2016022218335308000_174.4.R145.222","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101691"},{"key":"2016022218335308000_174.4.R145.223","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2275"},{"key":"2016022218335308000_174.4.R145.224","doi-asserted-by":"crossref","first-page":"E2117","DOI":"10.1210\/jc.2014-1949","article-title":"A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes","volume":"99","author":"Kerns","year":"2014","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.225","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-3228"},{"key":"2016022218335308000_174.4.R145.226","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1007\/s40618-015-0312-9","article-title":"Prader\u2013Willi syndrome: a review of clinical, genetic, and endocrine findings","volume":"38","author":"Angulo","year":"2015","journal-title":"Journal of Endocrinological Investigation"},{"key":"2016022218335308000_174.4.R145.227","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-2012"},{"key":"2016022218335308000_174.4.R145.228","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1007\/s11914-015-0268-x","article-title":"GNAS spectrum of disorders","volume":"13","author":"Turan","year":"2015","journal-title":"Current Osteoporosis Reports"},{"key":"2016022218335308000_174.4.R145.229","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.beem.2010.09.004","article-title":"Uniparental disomies 7 and 14","volume":"25","author":"Hoffmann","year":"2011","journal-title":"Best Practice & Research. Clinical Endocrinology & Metabolism"},{"key":"2016022218335308000_174.4.R145.230","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.ejmg.2008.03.001","article-title":"A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay","volume":"51","author":"Thiel","year":"2008","journal-title":"European Journal of Medical Genetics"},{"key":"2016022218335308000_174.4.R145.231","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.246"},{"key":"2016022218335308000_174.4.R145.232","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s13148-015-0062-8","article-title":"The IGF1 P2 promoter is an epigenetic QTL for circulating IGF1 and human growth","volume":"7","author":"Ouni","year":"2015","journal-title":"Clinical Epigenetics"},{"key":"2016022218335308000_174.4.R145.233","doi-asserted-by":"crossref","first-page":"E919","DOI":"10.1210\/jc.2015-1413","article-title":"Genetic and epigenetic modulation of growth hormone sensitivity studied with the IGF1 generation test","volume":"100","author":"Ouni","year":"2015","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.234","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-2491"},{"key":"2016022218335308000_174.4.R145.235","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1038\/ejhg.2015.226","article-title":"Guidelines for diagnostic next-generation sequencing","volume":"24","author":"Matthijs","year":"2016","journal-title":"European Journal of Human Genetics"},{"key":"2016022218335308000_174.4.R145.236","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMp1400788"},{"key":"2016022218335308000_174.4.R145.237","doi-asserted-by":"crossref","unstructured":"Zielonka M, Makhseed N, Blau N, Bettendorf M, Hoffmann GF & Opladen T. Dopamine-responsive growth-hormone deficiency and central hypothyroidism in sepiapterin reductase deficiency. In: JIMD Reports vol 24 pp 109\u2013113. Eds: J Zschocke, M Baumgartner, EMorava, M Patterson, S Rahman and V Peters Springer Verlag: Heidelberg 2015. (doi:10.1007\/8904_2015_450).","DOI":"10.1007\/8904_2015_450"},{"key":"2016022218335308000_174.4.R145.238","doi-asserted-by":"publisher","DOI":"10.1530\/EC-15-0015"},{"key":"2016022218335308000_174.4.R145.239","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1530\/EJE-11-0478","article-title":"Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes","volume":"165","author":"Gorbenko del","year":"2011","journal-title":"European Journal of Endocrinology\/European Federation of Endocrine Societies"},{"key":"2016022218335308000_174.4.R145.240","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1210\/er.2013-1067","article-title":"Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances","volume":"35","author":"Alatzoglou","year":"2014","journal-title":"Endocrine Reviews"},{"key":"2016022218335308000_174.4.R145.241","doi-asserted-by":"crossref","first-page":"E140","DOI":"10.1210\/jc.2014-1984","article-title":"Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome","volume":"100","author":"Karaca","year":"2015","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.242","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.beem.2010.06.006","article-title":"Genetics of GHRH, GHRH-receptor, GH and GH-receptor: Its impact on pharmacogenetics","volume":"25","author":"Mullis","year":"2011","journal-title":"Best Practice & Research. Clinical Endocrinology & Metabolism"},{"key":"2016022218335308000_174.4.R145.243","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2002.01823.x"},{"key":"2016022218335308000_174.4.R145.244","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.177.10.6889"},{"key":"2016022218335308000_174.4.R145.245","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/j.ejmg.2015.05.007","article-title":"FGFR2 mutation in a patient without typical features of Pfeiffer syndrome \u2013 the emerging role of combined NGS and phenotype based strategies","volume":"58","author":"Flottmann","year":"2015","journal-title":"European Journal of Medical Genetics"},{"key":"2016022218335308000_174.4.R145.246","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201700"},{"key":"2016022218335308000_174.4.R145.247","doi-asserted-by":"crossref","first-page":"1640","DOI":"10.1038\/ejhg.2015.38","article-title":"Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1","volume":"23","author":"Racacho","year":"2015","journal-title":"European Journal of Human Genetics"},{"key":"2016022218335308000_174.4.R145.248","doi-asserted-by":"crossref","first-page":"e94201","DOI":"10.1371\/journal.pone.0094201","article-title":"Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2)","volume":"9","author":"Liu","year":"2014","journal-title":"PLoS ONE"},{"key":"2016022218335308000_174.4.R145.249","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1002\/ajmg.a.37040","article-title":"Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C","volume":"167","author":"Al-Qattan","year":"2015","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.250","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"2016022218335308000_174.4.R145.251","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0048634"},{"key":"2016022218335308000_174.4.R145.252","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101039"},{"key":"2016022218335308000_174.4.R145.253","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9262-8"},{"key":"2016022218335308000_174.4.R145.254","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/ajmg.a.30855","article-title":"Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations \u2013 findings in 10 patients","volume":"137A","author":"Makitie","year":"2005","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.255","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1038\/ejhg.2014.30","article-title":"Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias","volume":"22","author":"Briggs","year":"2014","journal-title":"European Journal of Human Genetics"},{"key":"2016022218335308000_174.4.R145.256","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.matbio.2014.05.006","article-title":"Pseudoachondroplasia\/COMP \u2013 translating from the bench to the bedside","volume":"37","author":"Posey","year":"2014","journal-title":"Matrix Biology"},{"key":"2016022218335308000_174.4.R145.257","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/ajmg.a.36922","article-title":"A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype","volume":"167A","author":"Terhal","year":"2015","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.258","doi-asserted-by":"publisher","DOI":"10.1086\/444401"},{"key":"2016022218335308000_174.4.R145.259","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.011"},{"key":"2016022218335308000_174.4.R145.260","first-page":"285","article-title":"The RASopathies as an example of RAS\/MAPK pathway disturbances \u2013 clinical presentation and molecular pathogenesis of selected syndromes","volume":"18","author":"Bezniakow","year":"2014","journal-title":"Developmental Period Medicine"},{"key":"2016022218335308000_174.4.R145.261","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1324128111"},{"key":"2016022218335308000_174.4.R145.262","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.933"},{"key":"2016022218335308000_174.4.R145.263","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22252"},{"key":"2016022218335308000_174.4.R145.264","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1590\/S1415-475738120140147","article-title":"Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations","volume":"38","author":"Mattos","year":"2015","journal-title":"Genetics and Molecular Biology"},{"key":"2016022218335308000_174.4.R145.265","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-305858"},{"key":"2016022218335308000_174.4.R145.266","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1002\/jbmr.2091","article-title":"A recurrent de novo FAM111A mutation causes Kenny\u2013Caffey syndrome type 2","volume":"29","author":"Isojima","year":"2014","journal-title":"Journal of Bone and Mineral Research"},{"key":"2016022218335308000_174.4.R145.267","doi-asserted-by":"crossref","first-page":"e314","DOI":"10.1111\/apa.12980","article-title":"Spontaneous postnatal growth is reduced in children with CHARGE syndrome","volume":"104","author":"Dorr","year":"2015","journal-title":"Acta Paediatrica"},{"key":"2016022218335308000_174.4.R145.268","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1186\/s13023-015-0322-x","article-title":"Meier\u2013Gorlin syndrome","volume":"10","author":"de Munnik","year":"2015","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"2016022218335308000_174.4.R145.269","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.80"},{"key":"2016022218335308000_174.4.R145.270","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3122"},{"key":"2016022218335308000_174.4.R145.271","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31826e9a70"},{"key":"2016022218335308000_174.4.R145.272","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/ajmg.c.31400","article-title":"Genetic disorders associated with postnatal microcephaly","volume":"166C","author":"Seltzer","year":"2014","journal-title":"American Journal of Medical Genetics. Part C, Seminars in Medical Genetics"},{"key":"2016022218335308000_174.4.R145.273","doi-asserted-by":"publisher","DOI":"10.1101\/gr.160572.113"},{"key":"2016022218335308000_174.4.R145.274","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1111\/ijd.12408","article-title":"Bloom syndrome","volume":"53","author":"Arora","year":"2014","journal-title":"International Journal of Dermatology"},{"key":"2016022218335308000_174.4.R145.275","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1210\/jc.2014-4357","article-title":"Endocrine disorders in Fanconi anemia: recommendations for screening and treatment","volume":"100","author":"Petryk","year":"2015","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"2016022218335308000_174.4.R145.276","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.gene.2015.06.026","article-title":"The ERCC1 and ERCC4 (XPF) genes and gene products","volume":"569","author":"Manandhar","year":"2015","journal-title":"Gene"},{"key":"2016022218335308000_174.4.R145.277","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ceb.2015.05.007","article-title":"DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome","volume":"34","author":"Gonzalo","year":"2015","journal-title":"Current Opinion in Cell Biology"},{"key":"2016022218335308000_174.4.R145.278","doi-asserted-by":"crossref","first-page":"3137","DOI":"10.1172\/JCI74593","article-title":"Hypomorphic PCNA mutation underlies a human DNA repair disorder","volume":"124","author":"Baple","year":"2014","journal-title":"Journal of Clinical Investigation"},{"key":"2016022218335308000_174.4.R145.279","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/1750-1172-7-70","article-title":"Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?","volume":"7","author":"Morimoto","year":"2012","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"2016022218335308000_174.4.R145.280","doi-asserted-by":"publisher","DOI":"10.1172\/JCI60224"},{"key":"2016022218335308000_174.4.R145.281","doi-asserted-by":"publisher","DOI":"10.1172\/JCI61014"},{"key":"2016022218335308000_174.4.R145.282","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-7-13","article-title":"Nijmegen breakage syndrome (NBS)","volume":"7","author":"Chrzanowska","year":"2012","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"2016022218335308000_174.4.R145.283","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.11.002"},{"key":"2016022218335308000_174.4.R145.284","doi-asserted-by":"publisher","DOI":"10.1172\/JCI75334"},{"key":"2016022218335308000_174.4.R145.285","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X"},{"key":"2016022218335308000_174.4.R145.286","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2014.02.011"},{"key":"2016022218335308000_174.4.R145.287","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1016\/j.jaci.2015.01.040","article-title":"PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity","volume":"135","author":"Mathieu","year":"2015","journal-title":"Journal of Allergy and Clinical Immunology"},{"key":"2016022218335308000_174.4.R145.288","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0805384"},{"key":"2016022218335308000_174.4.R145.289","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052910"},{"key":"2016022218335308000_174.4.R145.290","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1242\/dmm.014464","article-title":"LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf\u2013Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition","volume":"7","author":"Hart","year":"2014","journal-title":"Disease Models & Mechanisms"},{"key":"2016022218335308000_174.4.R145.291","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.071902"},{"key":"2016022218335308000_174.4.R145.292","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36494"},{"key":"2016022218335308000_174.4.R145.293","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.164"},{"key":"2016022218335308000_174.4.R145.294","first-page":"903175","article-title":"Williams\u2013Beuren Syndrome: a clinical study of 55 Brazilian patients and the diagnostic use of MLPA","volume":"2015","author":"Honjo","year":"2015","journal-title":"BioMed Research International"},{"key":"2016022218335308000_174.4.R145.295","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.ejmg.2015.03.002","article-title":"Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome","volume":"58","author":"Maas","year":"2015","journal-title":"European Journal of Medical Genetics"},{"key":"2016022218335308000_174.4.R145.296","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/j.pcl.2014.11.005","article-title":"Common genetic and epigenetic syndromes","volume":"62","author":"Adams","year":"2015","journal-title":"Pediatric Clinics of North America"},{"key":"2016022218335308000_174.4.R145.297","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.ejmg.2009.03.001","article-title":"The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height","volume":"52","author":"Buysse","year":"2009","journal-title":"European Journal of Medical Genetics"},{"key":"2016022218335308000_174.4.R145.298","doi-asserted-by":"crossref","first-page":"2925","DOI":"10.1002\/ajmg.a.35610","article-title":"12q14 microdeletion associated with HMGA2 gene disruption and growth restriction","volume":"158A","author":"Alyaqoub","year":"2012","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.299","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.58"},{"key":"2016022218335308000_174.4.R145.300","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1002\/ajmg.a.36224","article-title":"Haploinsufficiency of BMP4 gene may be the underlying cause of Frias syndrome","volume":"164A","author":"Martinez-Fernandez","year":"2014","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.301","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1159\/000357359","article-title":"Identification of nine new RAI1-truncating mutations in Smith\u2013Magenis syndrome patients without 17p11.2 deletions","volume":"5","author":"Dubourg","year":"2014","journal-title":"Molecular Syndromology"},{"key":"2016022218335308000_174.4.R145.302","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu273"},{"key":"2016022218335308000_174.4.R145.303","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.ejmg.2011.09.004","article-title":"Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment","volume":"55","author":"Ostergaard","year":"2012","journal-title":"European Journal of Medical Genetics"},{"key":"2016022218335308000_174.4.R145.304","first-page":"25","article-title":"Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis","volume":"21","author":"Lukusa","year":"2010","journal-title":"Genetic Counseling"},{"key":"2016022218335308000_174.4.R145.305","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1002\/ajmg.a.31260","article-title":"Clinical and molecular characterization of individuals with 18p deletion: a genotype\u2013phenotype correlation","volume":"140","author":"Wester","year":"2006","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.306","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.008"},{"key":"2016022218335308000_174.4.R145.307","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1007\/s00439-013-1364-6","article-title":"Establishing a reference group for distal 18q-: clinical description and molecular basis","volume":"133","author":"Cody","year":"2014","journal-title":"Human Genetics"},{"key":"2016022218335308000_174.4.R145.308","doi-asserted-by":"crossref","first-page":"2707","DOI":"10.1002\/ajmg.a.36711","article-title":"Central 22q11.2 deletions","volume":"164A","author":"Rump","year":"2014","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"2016022218335308000_174.4.R145.309","doi-asserted-by":"crossref","first-page":"123","DOI":"10.2147\/TACG.S82105","article-title":"22q11 deletion syndrome: current perspective","volume":"8","author":"Hacihamdioglu","year":"2015","journal-title":"Application of Clinical Genetics"},{"key":"2016022218335308000_174.4.R145.310","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1002\/ajmg.a.33204","article-title":"Methylation profiling in individuals with Russell\u2013Silver syndrome","volume":"152A","author":"Penaherrera","year":"2010","journal-title":"American Journal of Medical Genetics. Part A"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/174\/4\/R145.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/174\/4\/R145.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T14:23:51Z","timestamp":1718202231000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/174\/4\/R145\/6654979"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4]]},"references-count":310,"journal-issue":{"issue":"4"},"URL":"https:\/\/doi.org\/10.1530\/eje-15-0937","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,4]]}}}