{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T16:44:47Z","timestamp":1786985087841,"version":"build-2736575974"},"reference-count":94,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T00:00:00Z","timestamp":1533081600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T00:00:00Z","timestamp":1533081600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004726","name":"Ministry of Health","doi-asserted-by":"publisher","award":["FIS-PI13\/02195"],"award-info":[{"award-number":["FIS-PI13\/02195"]}],"id":[{"id":"10.13039\/501100004726","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004726","name":"Ministry of Health","doi-asserted-by":"publisher","award":["PI16\/00485"],"award-info":[{"award-number":["PI16\/00485"]}],"id":[{"id":"10.13039\/501100004726","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"FEDER","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red for obesity and nutrition (CIBEROBN)"},{"name":"Fundaci\u00f3n de Endocrinolog\u00eda y Nutrici\u00f3n"},{"name":"Spanish Ministry of Health","award":["FIS-PI1302481"],"award-info":[{"award-number":["FIS-PI1302481"]}]},{"DOI":"10.13039\/501100002809","name":"the Generalitat de Catalunya","doi-asserted-by":"crossref","award":["2014SRG1468"],"award-info":[{"award-number":["2014SRG1468"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"the Instituci\u00f3 Catalana de Recerca i Estudis Avan\u00e7ats (ICREA Academia Program)"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red for rare diseases (CIBERER)"},{"name":"Spanish Ministry of Economy"},{"name":"Competiveness \u201cPrograma de Excelencia Mar\u00eda de Maeztu\u201d","award":["MDM-2014-0370"],"award-info":[{"award-number":["MDM-2014-0370"]}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice & Research Clinical Endocrinology & Metabolism"],"published-print":{"date-parts":[[2018,8]]},"DOI":"10.1016\/j.beem.2018.05.012","type":"journal-article","created":{"date-parts":[[2018,6,6]],"date-time":"2018-06-06T13:02:38Z","timestamp":1528290158000},"page":"499-522","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":26,"title":["Genetic causes of proportionate short stature"],"prefix":"10.1016","volume":"32","author":[{"given":"Jes\u00fas","family":"Argente","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis A.","family":"P\u00e9rez-Jurado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.beem.2018.05.012_bib1","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1159\/000442350","article-title":"Challenges in the management of short stature","volume":"85","author":"Argente","year":"2016","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.beem.2018.05.012_bib2","doi-asserted-by":"crossref","first-page":"2184","DOI":"10.1056\/NEJMp038156","article-title":"Insulin-like growth factors and the basis of growth","volume":"349","author":"Rosenfeld","year":"2003","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.012_bib3","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1038\/nature09410","article-title":"Hundreds of variants clustered in genomic and bioilogical patways affect human height","volume":"467","author":"Lango Allen","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.beem.2018.05.012_bib4","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1375\/136905203770326402","article-title":"Heritability of adult body height: a comparative study of twin cohorts in eight countries","volume":"6","author":"Silventoinen","year":"2003","journal-title":"Twin Res"},{"key":"10.1016\/j.beem.2018.05.012_bib5","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1038\/nature21039","article-title":"Rare and low-frequency coding variants alter human adult height","volume":"542","author":"Marouli","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.beem.2018.05.012_bib6","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.15252\/emmm.201707950","article-title":"One level up: abnormal proyeolytic regulation of IGF activity plays a role in human pathophysiology","volume":"9","author":"Argente","year":"2017","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.beem.2018.05.012_bib7","doi-asserted-by":"crossref","first-page":"21849","DOI":"10.1074\/jbc.M102191200","article-title":"Pregnancy-associated plasma protein-A2 (PAPP-A2), a novel insulin-like growth factor-binding protein-5 proteinase","volume":"276","author":"Overgaard","year":"2001","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.beem.2018.05.012_bib8","doi-asserted-by":"crossref","first-page":"2837","DOI":"10.1210\/en.2011-0036","article-title":"Pregnancy-associated plasma protein-A2 (PAPP-A2): tissue expression and biological consequences of gene knockout in mice","volume":"152","author":"Conover","year":"2011","journal-title":"Endocrinology"},{"key":"10.1016\/j.beem.2018.05.012_bib9","doi-asserted-by":"crossref","first-page":"21915","DOI":"10.1074\/jbc.M115.650143","article-title":"Stanniocalcin-1 potently inhibits the proteolytic activity of the metalloproteinase pregnancy-associated plasma protein-A","volume":"290","author":"Kl\u00f8verpris","year":"2015","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.beem.2018.05.012_bib10","doi-asserted-by":"crossref","first-page":"3430","DOI":"10.1074\/jbc.M114.611665","article-title":"Stanniocalcin-2 inhibits mammalian growth by proteolytic inhibition of the insulin-like growth factor axis","volume":"290","author":"Jepsen","year":"2015","journal-title":"J\u00a0Biol Chem"},{"issue":"5 suppl","key":"10.1016\/j.beem.2018.05.012_bib11","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1016\/j.jpeds.2014.02.027","article-title":"Etiologies and early diagnosis of short stature and growth failure in children and adolescents","volume":"164","author":"Rogol","year":"2014","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.beem.2018.05.012_bib12","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1056\/NEJMcp1213178","article-title":"Short stature in childhood \u2013 challenges and choices","volume":"368","author":"Allen","year":"2013","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.012_bib13","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1750-1172-5-19","article-title":"Silver-Russell syndrome: genetic basis and molecular genetic testing","volume":"5","author":"Eggermann","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.beem.2018.05.012_bib14","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1136\/jmedgenet-2014-102979","article-title":"A\u00a0prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome","volume":"52","author":"Azzi","year":"2015","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib15","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1038\/nrendo.2016.138","article-title":"Diagnosis and management of Silver-Russell s\u00edndrome: first international consensus statement","volume":"13","author":"Wakeling","year":"2017","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.beem.2018.05.012_bib16","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1038\/ejhg.2014.234","article-title":"Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype","volume":"23","author":"Kagami","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib17","first-page":"983","article-title":"Metabolic health and long-term safety of growth hormone treatment in silver-russell syndrome","volume":"102","author":"Smeets","year":"2017","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib18","doi-asserted-by":"crossref","first-page":"3138","DOI":"10.1002\/ajmg.a.33716","article-title":"IMAGe syndrome: case report with a previously unreported feature and review of published literature","volume":"152A","author":"Balasubramanian","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.beem.2018.05.012_bib19","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1038\/ng.2275","article-title":"Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome","volume":"44","author":"Arboleda","year":"2012","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib20","series-title":"GeneReviews\u00ae [Internet]","first-page":"1993","author":"Verloes","year":"2009"},{"key":"10.1016\/j.beem.2018.05.012_bib21","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1126\/science.1202205","article-title":"Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA","volume":"332","author":"Edery","year":"2011","journal-title":"Science"},{"key":"10.1016\/j.beem.2018.05.012_bib22","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1126\/science.1200587","article-title":"Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I","volume":"332","author":"He","year":"2011","journal-title":"Science"},{"key":"10.1016\/j.beem.2018.05.012_bib23","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1126\/science.1151174","article-title":"Mutations in the pericentrin (PCNT) gene cause primordial dwarfism","volume":"319","author":"Rauch","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.beem.2018.05.012_bib24","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.beem.2010.08.015","article-title":"The 3M syndrome","volume":"25","author":"Huber","year":"2011","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib25","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.ajhg.2011.05.028","article-title":"Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth","volume":"89","author":"Hanson","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib26","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1038\/ng.775","article-title":"Mutations in the pre-replication complex cause Meier-Gorlin syndrome","volume":"43","author":"Bicknell","year":"2011","journal-title":"Nature Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib27","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1038\/ejhg.2011.269","article-title":"Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis","volume":"20","author":"de Munnik","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib28","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1186\/s13023-015-0322-x","article-title":"Meier-Gorlin syndrome","volume":"10","author":"de Munnik","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.beem.2018.05.012_bib29","first-page":"11","article-title":"Genetic basis of endocrine disease 6: molecular basis of familial human growth hormone deficiency","volume":"78","author":"Phillips","year":"1994","journal-title":"J\u00a0Clin Endocr Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib30","first-page":"185","article-title":"Molecular diagnosis and endocrine evaluation of a patient with a homozygous 7.0 kb deletion of the growth hormone (GH) gene cluster: response to biosynthetic GH therapy","volume":"10","author":"P\u00e9rez-Jurado","year":"1997","journal-title":"J\u00a0Pediatr Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib31","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 Mol Med"},{"key":"10.1016\/j.beem.2018.05.012_bib32","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1261\/rna.062844.117","article-title":"Mutations in the U11\/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA","volume":"24","author":"Norppa","year":"2018","journal-title":"RNA"},{"key":"10.1016\/j.beem.2018.05.012_bib33","doi-asserted-by":"crossref","first-page":"2459","DOI":"10.1210\/jcem.86.6.7536","article-title":"Growth hormone (GH) secretion in patients with an inactivating defect of the GH-releasing hormone (GHRH) receptor is pulsatile: evidence for a role for non-GHRH inputs into the generation of GH pulses","volume":"86","author":"Roelfsema","year":"2001","journal-title":"J\u00a0Clin Endocr Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib34","doi-asserted-by":"crossref","first-page":"4334","DOI":"10.1210\/jc.2009-1327","article-title":"Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor","volume":"94","author":"Pantel","year":"2009","journal-title":"J\u00a0Clin Endocr Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib35","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1530\/EJE-11-0168","article-title":"Novel inactivating mutations kin the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty","volume":"165","author":"Pugliese-Pires","year":"2011","journal-title":"Eur J Endpcrinol"},{"key":"10.1016\/j.beem.2018.05.012_bib36","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1210\/jcem-47-2-461","article-title":"Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH","volume":"47","author":"Kowarski","year":"1978","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib37","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1056\/NEJM199602153340704","article-title":"Short stature caused by a mutant growth hormone","volume":"334","author":"Takashahi","year":"1996","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.012_bib38","first-page":"347","article-title":"Autosomal dominant growth hormone deficiency (type II)","volume":"12","author":"Alatzoglou","year":"2015","journal-title":"Pediatr Endocrinol Rev"},{"key":"10.1016\/j.beem.2018.05.012_bib39","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s00431-005-0023-x","article-title":"X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth deficiency","volume":"165","author":"Alangari","year":"2006","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.beem.2018.05.012_bib40","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1210\/er.2016-1101","article-title":"Genetics of combined pituitary hormone deficiency: roadmap into the genome era","volume":"37","author":"Fang","year":"2016","journal-title":"Endocr Rev"},{"key":"10.1016\/j.beem.2018.05.012_bib41","doi-asserted-by":"crossref","first-page":"E779","DOI":"10.1210\/jc.2012-3982","article-title":"Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes","volume":"98","author":"Tatsi","year":"2013","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib42","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1016\/j.beem.2016.09.005","article-title":"Genetic causes of isolated and combined pituitary hormone deficiency","volume":"30","author":"Giordano","year":"2016","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib43","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1002\/humu.22759","article-title":"Mutations in TAX1BP3 cause dilated cadiomyopathy with septo-optic dysplasia","volume":"36","author":"Reinstein","year":"2015","journal-title":"Hum Mutat"},{"key":"10.1016\/j.beem.2018.05.012_bib44","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1086\/430134","article-title":"Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism","volume":"76","author":"Woods","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib45","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1126\/science.257.5073.1118","article-title":"Mutation of the POU-specific domain Pit-1 and hypopituitarism without pituitary hypoplasia","volume":"257","author":"Pf\u00e4ffle","year":"1992","journal-title":"Science"},{"key":"10.1016\/j.beem.2018.05.012_bib46","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/ng0298-147","article-title":"Mutations in PROP1 cause familial combined pituitary hormone deficiency","volume":"18","author":"Wu","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib47","doi-asserted-by":"crossref","first-page":"2200","DOI":"10.1210\/jc.2003-031765","article-title":"Pituitary magnetic resonance imaging in 15 p\u00e0ti9ents with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe","volume":"89","author":"Voutetakis","year":"2004","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib48","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/76041","article-title":"Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency","volume":"25","author":"Netchine","year":"2000","journal-title":"Nature Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib49","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1086\/323764","article-title":"Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4","volume":"69","author":"Machinis","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib50","first-page":"152","article-title":"Genetic pituitary dwarfism with high serum concentation of growth hormone\u2013a new inborn error of metabolism?","volume":"2","author":"Laron","year":"1966","journal-title":"Isr J Med Sci"},{"key":"10.1016\/j.beem.2018.05.012_bib51","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/330537a0","article-title":"Growth hormone receptor and serum binding protein: purification, cloning and expression","volume":"330","author":"Leung","year":"1987","journal-title":"Nature"},{"key":"10.1016\/j.beem.2018.05.012_bib52","doi-asserted-by":"crossref","first-page":"8083","DOI":"10.1073\/pnas.86.20.8083","article-title":"Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron type dwarfism","volume":"86","author":"Godowski","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.beem.2018.05.012_bib53","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1056\/NEJM198910123211501","article-title":"Laron dwarfism and mutations of the growth hormone- receptor gene","volume":"321","author":"Amselem","year":"1989","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.012_bib54","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/S0022-3476(73)80485-8","article-title":"Laron's dwarfism: studies on the nature of the defect","volume":"83","author":"Elders","year":"1973","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.beem.2018.05.012_bib55","series-title":"Advances in internal medicine and pediatrics","first-page":"117","article-title":"Laron type dwarfism (hereditary somatomedin deficiency): a review","author":"Laron","year":"1984"},{"key":"10.1016\/j.beem.2018.05.012_bib56","first-page":"1","article-title":"Lessons from Laron syndrome (LS) 1966\u20131992. A model of GH and IGF-I action and interaction","volume":"24","author":"Laron","year":"1993","journal-title":"Pediatr Adolesc Endocrinol"},{"key":"10.1016\/j.beem.2018.05.012_bib57","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1210\/edrv-15-3-369","article-title":"Growth hormone (GH) insensitivity due to primary GH receptor deficiency","volume":"15","author":"Rosenfeld","year":"1994","journal-title":"Endocr Rev"},{"key":"10.1016\/j.beem.2018.05.012_bib58","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/S0022-3476(06)80120-4","article-title":"Classification of growth hormone insensitivity syndrome","volume":"122","author":"Laron","year":"1993","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.beem.2018.05.012_bib59","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1172\/JCI115071","article-title":"Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism","volume":"87","author":"Amselem","year":"1991","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.beem.2018.05.012_bib60","first-page":"998","article-title":"Diverse growth hormone receptor gene mutations in Laron syndrome","volume":"52","author":"Berg","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib61","first-page":"1686","article-title":"A\u00a0homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein","volume":"81","author":"Woods","year":"1996","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib62","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1056\/NEJM199510263331701","article-title":"Mutations of the growth hormone receptor in children with idiopathic short stature","volume":"333","author":"Goddard","year":"1995","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.012_bib63","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/ng0597-13","article-title":"A\u00a0dominant-negative mutation of the growth hormone receptor causes familial short stature","volume":"16","author":"Ayling","year":"1997","journal-title":"Nature Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib64","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.ghir.2007.01.016","article-title":"Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature","volume":"17","author":"Guevara-Aguirre","year":"2007","journal-title":"Growth Hormone IGF Res"},{"key":"10.1016\/j.beem.2018.05.012_bib65","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 Pract Res Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib66","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1056\/NEJMoa022926","article-title":"Growth hormone insensitivity associated with a STAT5b mutation","volume":"349","author":"Kofoed","year":"2003","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.012_bib67","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1210\/me.2012-1275","article-title":"Severe growth deficiency is associated with STATtb mutations that disrupt protein folding and activity","volume":"27","author":"Varco-Merth","year":"2013","journal-title":"Mol Endocrinol"},{"key":"10.1016\/j.beem.2018.05.012_bib68","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1530\/EJE-15-0398","article-title":"STAT5B mutations in heterozygous state have negative impact on height: another clur in human stature heritability","volume":"173","author":"Scalco","year":"2015","journal-title":"Eur J Endocrinol"},{"issue":"18","key":"10.1016\/j.beem.2018.05.012_bib69","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1056\/NEJM199610313351805","article-title":"Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene","volume":"335","author":"Woods","year":"1999","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.012_bib70","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1136\/jmg.40.12.913","article-title":"A\u00a0novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency","volume":"40","author":"Bonapace","year":"2003","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib71","doi-asserted-by":"crossref","first-page":"2855","DOI":"10.1210\/jc.2004-1254","article-title":"Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation","volume":"90","author":"Walenkamp","year":"2005","journal-title":"J\u00a0Clin Endocr Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib72","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":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.012_bib73","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1056\/NEJMoa013100","article-title":"Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene","volume":"350","author":"Domen\u00e9","year":"2004","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.012_bib74","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.beem.2010.08.010","article-title":"Acid-labile subunit (ALS) deficiency","volume":"25","author":"Domen\u00e9","year":"2011","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib75","doi-asserted-by":"crossref","first-page":"4184","DOI":"10.1210\/jc.2010-0489","article-title":"Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium","volume":"95","author":"Fofanova-Gambetti","year":"2010","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib76","first-page":"129","article-title":"Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences","volume":"72","author":"Domen\u00e9","year":"2009","journal-title":"Horm Res"},{"key":"10.1016\/j.beem.2018.05.012_bib77","doi-asserted-by":"crossref","first-page":"2211","DOI":"10.1056\/NEJMoa010107","article-title":"IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation","volume":"349","author":"Abuzzahab","year":"2003","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.012_bib78","first-page":"19","article-title":"Genetic mutations, birth lengths, weights and head circumferences of children with IGF-I Receptor Defects. Comparison with other congenital defects in the GH\/IGF-I axis","volume":"14","author":"Essakow","year":"2016","journal-title":"Pediatr Endocrinol Rev"},{"key":"10.1016\/j.beem.2018.05.012_bib79","author":"Mu\u00f1oz-Calvo","year":"2015"},{"key":"10.1016\/j.beem.2018.05.012_bib80","doi-asserted-by":"crossref","first-page":"363","DOI":"10.15252\/emmm.201506106","article-title":"Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability","volume":"8","author":"Dauber","year":"2016","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.beem.2018.05.012_bib81","doi-asserted-by":"crossref","first-page":"2837","DOI":"10.1210\/en.2011-0036","article-title":"Pregnancy-associated plasma protein-A2 (PAPP-A2): tissue expression and biological consequences of gene knockout in mice","volume":"152","author":"Conover","year":"2011","journal-title":"Endocrinology"},{"key":"10.1016\/j.beem.2018.05.012_bib82","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1159\/000486336","article-title":"Recombinant human insulin like-growth Factor-1 treatment increases bone mineral density and trabecular bone structure in children with PAPP-A2 deficiency","volume":"89","author":"Hawkins-Carranza","year":"2018","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.beem.2018.05.012_bib83","doi-asserted-by":"crossref","first-page":"3879","DOI":"10.1210\/jc.2016-2751","article-title":"Treatment with recombinant human insulin-like growth Factor-1 improves growth in patients with PAPP-A2 deficiency","volume":"101","author":"Mu\u00f1oz-Calvo","year":"2016","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib84","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1530\/EJE-17-0453","article-title":"Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity","volume":"177","author":"Shapiro","year":"2017","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2018.05.012_bib85","first-page":"9","article-title":"Matchmaker exchange consortium. Matchmaker exchange","volume":"95","author":"Sobreira","year":"2017","journal-title":"Curr Protoc Hum Genet"},{"key":"10.1016\/j.beem.2018.05.012_bib86","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s13073-016-0278-z","article-title":"Molecular subtyping and improved treatment of neurodevelopmental disease","volume":"8","author":"Stessman","year":"2016","journal-title":"Genome Med"},{"key":"10.1016\/j.beem.2018.05.012_bib87","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.ecl.2016.01.008","article-title":"Growth and metabolism in children born small for gestational age","volume":"45","author":"van der Steen","year":"2016","journal-title":"Endocrinol Metab Clin N Am"},{"key":"10.1016\/j.beem.2018.05.012_bib88","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/S2213-8587(16)30422-3","article-title":"Metabolic health of young adults who were treated with growth hormone, after cessation of growth hormone treatment: a 5-year longitudinal study","volume":"5","author":"van der Steen","year":"2017","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"4","key":"10.1016\/j.beem.2018.05.012_bib89","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1159\/000371799","volume":"83","author":"Backeljauw","year":"2015","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.beem.2018.05.012_bib90","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.4158\/EP15939.RA","article-title":"Lessons from 50 years of study of Laron syndrome","volume":"21","author":"Laron","year":"2015","journal-title":"Endocr Pract"},{"issue":"4","key":"10.1016\/j.beem.2018.05.012_bib91","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1210\/js.2016-1119","article-title":"Novel dominant-negative GH receptor mutations expands the spectrum of GHI and IGF-I deficiency","volume":"1","author":"Vairamani","year":"2017","journal-title":"J\u00a0Endocr Soc"},{"key":"10.1016\/j.beem.2018.05.012_bib92","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1210\/jc.2006-1610","article-title":"GH Insensitivity Syndrome Collaborative Group. Long-term treatment with recombinant insulin-like growth factor (IGF)-I in children with severe IGF-I deficiency due to growth hormone insensititvity","volume":"92","author":"Chernausek","year":"2007","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib93","first-page":"1393","article-title":"A\u00a0randomized, double blind, placebo-controlled trial on safety and efficacy of recombinant human insulin-like growth factor-I in children with growth hormone receptor deficiency","volume":"80","author":"Guevara-Aguirre","year":"1995","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.012_bib94","first-page":"138","article-title":"Phenotypes, investigation and treatment of primary IGF-1 deficiency","volume":"24","author":"Savage","year":"2013","journal-title":"Endocr Dev"}],"container-title":["Best Practice & Research Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X18300800?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X18300800?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:52:34Z","timestamp":1761497554000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X18300800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8]]},"references-count":94,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["S1521690X18300800"],"URL":"https:\/\/doi.org\/10.1016\/j.beem.2018.05.012","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2018,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic causes of proportionate short stature","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Endocrinology & Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.beem.2018.05.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}