{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T21:23:03Z","timestamp":1787692983604,"version":"build-2784847793"},"reference-count":75,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Pfizer and Novo Nordisk Switzerland"},{"name":"Education Department of Basque Government"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Short stature is the most common reason for referral to pediatric endocrinology. Diagnosis primarily relies on history, physical exam and auxological assessment. Although growth hormone (GH) stimulation tests (GHST) are controversial, they remain relevant for determining eligibility for GH therapy. Individuals with idiopathic short stature (ISS) exhibit normal GHST results and lack features of skeletal dysplasia or syndromic conditions. Despite the strong genetic contribution to adult height (70%-90%), genetic testing is not included in routinely evaluation of children with short stature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>To assess the added diagnostic value of exome sequencing (ES) in children with short stature evaluated by GHST with variable outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Sixty children with short stature were evaluated by ES and stratified into three groups based on GHST peak concentrations: group a, \u22647\u2005ng\/mL; group b, 7-10\u2005ng\/mL, and group c, \u226510\u2005ng\/mL (n = 20 per group). Identified variants were analyzed and genotype-phenotype associations explored.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Disease-causing variants were identified in 8\/60 children (13.3%), most commonly in the GH peak 7-10\u2005ng\/mL group (n = 4), followed by \u226510\u2005ng\/mL (n = 3) and \u22647\u2005ng\/mL (n = 1) groups. Most pathogenic variants were in genes related to growth plate development; a subset was associated with syndromic conditions. Fourteen candidate variants of uncertain significance potentially linked to short stature were detected in 13 children (21.6%).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The limited correlation between GHST results and genetic findings highlights the diagnostic value of ES. Integrating genetic testing into the evaluation of short stature can enhance etiological understanding and support personalized management, particularly in ISS cases and decisions regarding GH therapy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvag038","type":"journal-article","created":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T12:48:00Z","timestamp":1771418880000},"page":"285-297","source":"Crossref","is-referenced-by-count":2,"title":["Exome findings in children with short stature evaluated by growth hormone stimulation testing"],"prefix":"10.1093","volume":"194","author":[{"given":"Idoia","family":"Martinez de Lapiscina","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern , Bern 3010 ,","place":["Switzerland"]},{"name":"Department for BioMedical Research, University of Bern , Bern 3008 ,","place":["Switzerland"]},{"name":"Research into the Genetics and Control of Diabetes and Other Endocrine Disorders, Biobizkaia Health Research Institute, Cruces University Hospital , Barakaldo 48903 ,","place":["Spain"]},{"name":"CIBER de Diabetes y Enfermedades Metab\u00f3licas Asociadas (CIBERDEM), Instituto de Salud Carlos III , Madrid 28029 ,","place":["Spain"]},{"name":"CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III , Madrid 28029 ,","place":["Spain"]},{"name":"Endo-ERN , Amsterdam 1081 HV ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Z\u00fcrcher","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern , Bern 3010 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Zingg","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern , Bern 3010 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Janner","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern , Bern 3010 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Saner","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern , Bern 3010 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Boettcher","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern , Bern 3010 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Zweier","sequence":"additional","affiliation":[{"name":"Department for BioMedical Research, University of Bern , Bern 3008 ,","place":["Switzerland"]},{"name":"Department of Human Genetics, Inselspital Bern, University of Bern , Bern 3010 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4568-5504","authenticated-orcid":false,"given":"Christa E","family":"Fl\u00fcck","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern , Bern 3010 ,","place":["Switzerland"]},{"name":"Department for BioMedical Research, University of Bern , Bern 3008 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,2,19]]},"reference":[{"issue":"1","key":"2026030304113931500_lvag038-B1","doi-asserted-by":"publisher","first-page":"49","DOI":"10.17925\/EE.2022.18.1.49","article-title":"Novel insights into the genetic causes of short stature in children","volume":"18","author":"Mastromauro","year":"2022","journal-title":"touchREV Endocrinol"},{"issue":"4","key":"2026030304113931500_lvag038-B2","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1097\/MOP.0000000000000235","article-title":"Regulation of body growth","volume":"27","author":"Lui","year":"2015","journal-title":"Curr Opin Pediatr"},{"issue":"6","key":"2026030304113931500_lvag038-B3","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1159\/000452150","article-title":"Guidelines for growth hormone and insulin-like growth factor-I treatment in children and adolescents: growth hormone deficiency, idiopathic short stature, and primary insulin-like growth factor-I deficiency","volume":"86","author":"Grimberg","year":"2016","journal-title":"Horm Res Paediatr"},{"issue":"7","key":"2026030304113931500_lvag038-B4","doi-asserted-by":"publisher","first-page":"e220504","DOI":"10.1530\/EC-22-0504","article-title":"Diagnosis and testing for growth hormone deficiency across the ages: a global view of the accuracy, caveats, and cut-offs for diagnosis","volume":"12","author":"Yuen","year":"2023","journal-title":"Endocr Connect"},{"issue":"3","key":"2026030304113931500_lvag038-B5","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1530\/EJE-14-0165","article-title":"Clinical evidence-based cutoff limits for GH stimulation tests in children with a backup of results with reference to mass spectrometry","volume":"171","author":"Wagner","year":"2014","journal-title":"Eur J Endocrinol"},{"key":"2026030304113931500_lvag038-B6","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.ghir.2017.12.003","article-title":"Genetic short stature","volume":"38","author":"Grunauer","year":"2018","journal-title":"Growth Horm IGF Res"},{"issue":"11","key":"2026030304113931500_lvag038-B7","doi-asserted-by":"publisher","first-page":"4210","DOI":"10.1210\/jc.2008-0509","article-title":"Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the growth hormone research society, the Lawson Wilkins pediatric endocrine society, and the European society for paediatric endocrinology workshop","volume":"93","author":"Cohen","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2026030304113931500_lvag038-B8","doi-asserted-by":"publisher","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":"Nat Rev Endocrinol"},{"issue":"Suppl. 3","key":"2026030304113931500_lvag038-B9","first-page":"480","article-title":"GH1 gene deletions and IGHD type 1A","volume":"3","author":"Cogan","year":"2006","journal-title":"Pediatr Endocrinol Rev"},{"issue":"2","key":"2026030304113931500_lvag038-B10","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1210\/jc.2016-3313","article-title":"Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations","volume":"102","author":"Gkourogianni","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2026030304113931500_lvag038-B11","doi-asserted-by":"publisher","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":"Clin Endocrinol (Oxf)"},{"issue":"3","key":"2026030304113931500_lvag038-B12","doi-asserted-by":"publisher","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 Genet"},{"issue":"5","key":"2026030304113931500_lvag038-B13","doi-asserted-by":"publisher","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":"Horm Res Paediatr"},{"issue":"4","key":"2026030304113931500_lvag038-B14","doi-asserted-by":"publisher","first-page":"R145","DOI":"10.1530\/EJE-15-0937","article-title":"Mechanisms in endocrinology: novel genetic causes of short stature","volume":"174","author":"Wit","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"2026030304113931500_lvag038-B15","doi-asserted-by":"publisher","first-page":"1399186","DOI":"10.3389\/fgene.2024.1399186","article-title":"Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing","volume":"15","author":"Sun","year":"2024","journal-title":"Front Genet"},{"key":"2026030304113931500_lvag038-B16","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1016\/j.cca.2021.08.030","article-title":"Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: a mutational hotspot p.Trp161 and literature review","volume":"523","author":"Zhao","year":"2021","journal-title":"Clin Chim Acta"},{"issue":"5","key":"2026030304113931500_lvag038-B17","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1159\/000446476","article-title":"Two patients with severe short stature due to a FBN1 mutation (p.Ala1728Val) with a mild form of acromicric dysplasia","volume":"86","author":"de Bruin","year":"2016","journal-title":"Horm Res Paediatr"},{"issue":"1","key":"2026030304113931500_lvag038-B18","doi-asserted-by":"publisher","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":"Horm Res Paediatr"},{"issue":"1","key":"2026030304113931500_lvag038-B19","doi-asserted-by":"publisher","first-page":"12225","DOI":"10.1038\/s41598-017-12465-6","article-title":"Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature","volume":"7","author":"Hauer","year":"2017","journal-title":"Sci Rep"},{"issue":"6","key":"2026030304113931500_lvag038-B20","doi-asserted-by":"publisher","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"},{"issue":"7","key":"2026030304113931500_lvag038-B21","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1056\/NEJMp1400788","article-title":"Genotype-phenotype correlation\u2013promiscuity in the era of next-generation sequencing","volume":"371","author":"Lu","year":"2014","journal-title":"N Engl J Med"},{"issue":"10","key":"2026030304113931500_lvag038-B22","doi-asserted-by":"publisher","first-page":"bvaf133","DOI":"10.1210\/jendso\/bvaf133","article-title":"Comparative outcomes of GH treatment in pediatric idiopathic short stature and GH deficiency","volume":"9","author":"Phillip","year":"2025","journal-title":"J Endocr Soc"},{"issue":"6","key":"2026030304113931500_lvag038-B23","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1016\/j.beem.2016.11.002","article-title":"Diagnosis of growth hormone deficiency in the paediatric and transitional age","volume":"30","author":"Chinoy","year":"2016","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"9","key":"2026030304113931500_lvag038-B24","doi-asserted-by":"publisher","first-page":"660","DOI":"10.2471\/BLT.07.043497","article-title":"Development of a WHO growth reference for school-aged children and adolescents","volume":"85","author":"de Onis","year":"2007","journal-title":"Bull World Health Organ"},{"issue":"11","key":"2026030304113931500_lvag038-B25","doi-asserted-by":"publisher","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics (Oxford, England)"},{"issue":"5","key":"2026030304113931500_lvag038-B26","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"W1","key":"2026030304113931500_lvag038-B27","doi-asserted-by":"publisher","first-page":"W93","DOI":"10.1093\/nar\/gkz437","article-title":"ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations","volume":"47","author":"Renaux","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"2026030304113931500_lvag038-B28","first-page":"1","article-title":"Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development","volume":"52","author":"Prader","year":"1989","journal-title":"Helv Paediatr Acta Suppl"},{"issue":"3","key":"2026030304113931500_lvag038-B29","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1002\/ajpa.1330350306","article-title":"Attributes of the radiographic standard of reference for the National Health Examination Survey","volume":"35","author":"Pyle","year":"1971","journal-title":"Am J Phys Anthropol"},{"issue":"5","key":"2026030304113931500_lvag038-B30","doi-asserted-by":"publisher","first-page":"1712","DOI":"10.1210\/jc.2013-3059","article-title":"Reference intervals for insulin-like growth factor-1 (IGF-I) from birth to senescence: results from a multicenter study using a new automated chemiluminescence IGF-I immunoassay conforming to recent international recommendations","volume":"99","author":"Bidlingmaier","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2026030304113931500_lvag038-B31","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1038\/ng772","article-title":"Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome","volume":"29","author":"Tartaglia","year":"2001","journal-title":"Nat Genet"},{"issue":"5","key":"2026030304113931500_lvag038-B32","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1016\/j.recesp.2011.12.016","article-title":"Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes","volume":"65","author":"Ezquieta","year":"2012","journal-title":"Rev Esp Cardiol (Engl Ed)"},{"issue":"3","key":"2026030304113931500_lvag038-B33","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1159\/000433468","article-title":"Novel mutations in HESX1 and PROP1 genes in combined pituitary hormone deficiency","volume":"84","author":"Avbelj Stefanija","year":"2015","journal-title":"Horm Res Paediatr"},{"issue":"1","key":"2026030304113931500_lvag038-B34","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.gim.2021.08.011","article-title":"Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort","volume":"24","author":"Saeidian","year":"2022","journal-title":"Genet Med"},{"key":"2026030304113931500_lvag038-B35","doi-asserted-by":"publisher","first-page":"161","DOI":"10.3389\/fphys.2017.00161","article-title":"Tissue nonspecific alkaline phosphatase (TNAP). regulates cranial base growth and synchondrosis maturation","volume":"8","author":"Nam","year":"2017","journal-title":"Front Physiol"},{"issue":"10","key":"2026030304113931500_lvag038-B36","doi-asserted-by":"publisher","first-page":"5776","DOI":"10.3390\/ijms23105776","article-title":"Whole aspect of Runx2 functions in skeletal development","volume":"23","author":"Komori","year":"2022","journal-title":"Int J Mol Sci"},{"issue":"2","key":"2026030304113931500_lvag038-B37","doi-asserted-by":"publisher","first-page":"53","DOI":"10.3233\/PGE-13049","article-title":"Lowe syndrome\/dent-2 disease: a comprehensive review of known and novel aspects","volume":"2","author":"Recker","year":"2013","journal-title":"J Pediatr Genet"},{"issue":"1","key":"2026030304113931500_lvag038-B38","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1186\/s12864-015-1898-1","article-title":"De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature","volume":"16","author":"Yu","year":"2015","journal-title":"BMC Genomics"},{"issue":"6","key":"2026030304113931500_lvag038-B39","doi-asserted-by":"publisher","first-page":"1742","DOI":"10.1210\/clinem\/dgab084","article-title":"Familial short stature-A novel phenotype of growth plate collagenopathies","volume":"106","author":"Plachy","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"2026030304113931500_lvag038-B40","doi-asserted-by":"publisher","first-page":"4273","DOI":"10.1210\/jc.2018-02288","article-title":"High prevalence of growth plate gene variants in children with familial short stature treated with GH","volume":"104","author":"Plachy","year":"2019","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2026030304113931500_lvag038-B41","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/j.tig.2008.09.006","article-title":"Reaching new heights: insights into the genetics of human stature","volume":"24","author":"Weedon","year":"2008","journal-title":"Trends Genet"},{"issue":"5","key":"2026030304113931500_lvag038-B42","doi-asserted-by":"publisher","first-page":"e1303","DOI":"10.1210\/clinem\/dgaf010","article-title":"Loss-of-function GHSR variants are associated with short stature and low IGF-I","volume":"110","author":"Punt","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2026030304113931500_lvag038-B43","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1530\/EJE-15-0398","article-title":"STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability","volume":"173","author":"Scalco","year":"2015","journal-title":"Eur J Endocrinol"},{"issue":"4","key":"2026030304113931500_lvag038-B44","doi-asserted-by":"publisher","first-page":"472","DOI":"10.1210\/er.2010-0023","article-title":"Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity","volume":"32","author":"David","year":"2011","journal-title":"Endocr Rev"},{"issue":"6","key":"2026030304113931500_lvag038-B45","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1097\/GIM.0b013e3181a7e8f8","article-title":"American College of Medical Genetics (ACMG) professional practice and guidelines committee. ACMG practice guideline: genetic evaluation of short stature","volume":"11","author":"Seaver","year":"2009","journal-title":"Genet Med"},{"issue":"1","key":"2026030304113931500_lvag038-B46","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1038\/s41392-020-00222-7","article-title":"FGF\/FGFR signaling in health and disease","volume":"5","author":"Xie","year":"2020","journal-title":"Signal Transduct Target Ther"},{"issue":"1","key":"2026030304113931500_lvag038-B47","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1111\/j.1601-0825.2009.01623.x","article-title":"RUNX2 mutations in cleidocranial dysplasia patients","volume":"16","author":"Ryoo","year":"2010","journal-title":"Oral Dis"},{"issue":"4","key":"2026030304113931500_lvag038-B48","doi-asserted-by":"publisher","first-page":"312","DOI":"10.6065\/apem.2244294.147","article-title":"Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia","volume":"28","author":"Lee","year":"2023","journal-title":"Ann Pediatr Endocrinol Metab"},{"issue":"6","key":"2026030304113931500_lvag038-B49","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1016\/j.ghir.2005.08.004","article-title":"Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature","volume":"15","author":"Bonioli","year":"2005","journal-title":"Growth Horm IGF Res"},{"issue":"3","key":"2026030304113931500_lvag038-B50","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1172\/JCI25303","article-title":"Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature","volume":"116","author":"Pantel","year":"2006","journal-title":"J Clin Invest"},{"issue":"17","key":"2026030304113931500_lvag038-B51","doi-asserted-by":"publisher","first-page":"1093","DOI":"10.1056\/NEJM199510263331701","article-title":"Mutations of the growth hormone receptor in children with idiopathic short stature. The growth hormone insensitivity study group","volume":"333","author":"Goddard","year":"1995","journal-title":"N Engl J Med"},{"issue":"1","key":"2026030304113931500_lvag038-B52","doi-asserted-by":"publisher","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":"J Clin Endocrinol Metab"},{"issue":"3","key":"2026030304113931500_lvag038-B53","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1016\/j.ajhg.2012.02.007","article-title":"Haploinsufficiency of ARID1B, a member of the SWI\/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability","volume":"90","author":"Hoyer","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2026030304113931500_lvag038-B54","doi-asserted-by":"publisher","first-page":"1720452","DOI":"10.3389\/fcell.2025.1720452","article-title":"Clinical variation in Lowe syndrome: what and how?","volume":"13","author":"Brewer","year":"2025","journal-title":"Front Cell Dev Biol"},{"issue":"3-4","key":"2026030304113931500_lvag038-B55","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1080\/08977194.2019.1669589","article-title":"Lowe syndrome with extremely short stature: growth hormone deficiency may be the pathogeny","volume":"37","author":"Dai","year":"2019","journal-title":"Growth Factors"},{"issue":"12","key":"2026030304113931500_lvag038-B56","doi-asserted-by":"publisher","first-page":"2926","DOI":"10.1002\/ajmg.a.61883","article-title":"EP300-related Rubinstein-taybi syndrome: highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients","volume":"182","author":"Cohen","year":"2020","journal-title":"Am J Med Genet A"},{"key":"2026030304113931500_lvag038-B57","doi-asserted-by":"publisher","first-page":"1588657","DOI":"10.3389\/fgene.2025.1588657","article-title":"Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review","volume":"16","author":"Wang","year":"2025","journal-title":"Front Genet"},{"key":"2026030304113931500_lvag038-B58","doi-asserted-by":"publisher","first-page":"1417607","DOI":"10.3389\/fonc.2024.1417607","article-title":"MYCN in human development and diseases","volume":"14","author":"Nishio","year":"2024","journal-title":"Front Oncol"},{"issue":"5","key":"2026030304113931500_lvag038-B59","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1016\/j.jgg.2021.02.008","article-title":"Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature","volume":"48","author":"Fan","year":"2021","journal-title":"J Genet Genomics"},{"issue":"9","key":"2026030304113931500_lvag038-B60","doi-asserted-by":"publisher","first-page":"3080","DOI":"10.1210\/jc.2014-1506","article-title":"Genetic evaluation of short stature","volume":"99","author":"Dauber","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2026030304113931500_lvag038-B61","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000502231","article-title":"Diagnosis, genetics, and therapy of short stature in children: a growth hormone research society international perspective","volume":"92","author":"Collett-Solberg","year":"2019","journal-title":"Horm Res Paediatr"},{"issue":"1","key":"2026030304113931500_lvag038-B62","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/endocrines4010001","article-title":"Idiopathic short stature: what to expect from genomic investigations","volume":"4","author":"Andrade","year":"2023","journal-title":"Endocrines"},{"issue":"1","key":"2026030304113931500_lvag038-B63","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1097\/MED.0b013e328341f873","article-title":"Therapy of growth disorders","volume":"18","author":"Ali","year":"2011","journal-title":"Curr Opin Endocrinol Diabetes Obes"},{"key":"2026030304113931500_lvag038-B64","doi-asserted-by":"publisher","first-page":"1141039","DOI":"10.3389\/fendo.2023.1141039","article-title":"Short stature related to growth hormone insensitivity (GHI) in childhood","volume":"14","author":"Mastromauro","year":"2023","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"5","key":"2026030304113931500_lvag038-B65","doi-asserted-by":"publisher","first-page":"1458","DOI":"10.1210\/jc.2016-2941","article-title":"ACAN gene mutations in short children born SGA and response to growth hormone treatment","volume":"102","author":"van der Steen","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2026030304113931500_lvag038-B66","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1210\/jc.2017-02026","article-title":"IHH gene mutations causing short stature with nonspecific skeletal abnormalities and response to growth hormone therapy","volume":"103","author":"Vasques","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2026030304113931500_lvag038-B67","doi-asserted-by":"publisher","first-page":"dgaa037","DOI":"10.1210\/clinem\/dgaa037","article-title":"NPR2 variants are frequent among children with familiar short stature and respond well to growth hormone therapy","volume":"105","author":"Plachy","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2026030304113931500_lvag038-B68","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1038\/gim.2017.159","article-title":"Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature","volume":"20","author":"Hauer","year":"2018","journal-title":"Genet Med"},{"key":"2026030304113931500_lvag038-B69","doi-asserted-by":"publisher","first-page":"117779","DOI":"10.1016\/j.cca.2024.117779","article-title":"Molecular diagnosis is an important indicator for response to growth hormone therapy in children with short stature","volume":"554","author":"Zhao","year":"2024","journal-title":"Clin Chim Acta"},{"issue":"4","key":"2026030304113931500_lvag038-B70","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1210\/clinem\/dgab863","article-title":"Clinical profiles and genetic Spectra of 814 Chinese children with short stature","volume":"107","author":"Li","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"key":"2026030304113931500_lvag038-B71","doi-asserted-by":"publisher","first-page":"111489","DOI":"10.1016\/j.mce.2021.111489","article-title":"Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients","volume":"544","author":"Ahn","year":"2022","journal-title":"Mol Cell Endocrinol"},{"issue":"1","key":"2026030304113931500_lvag038-B72","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1159\/000492879","article-title":"Genetic evaluation of 114 Chinese short stature children in the next generation era: a single center study","volume":"49","author":"Huang","year":"2018","journal-title":"Cell Physiol Biochem"},{"issue":"5","key":"2026030304113931500_lvag038-B73","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1530\/EJE-21-0557","article-title":"High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies","volume":"185","author":"Sentchordi-Montan\u00e9","year":"2021","journal-title":"Eur J Endocrinol"},{"issue":"11","key":"2026030304113931500_lvag038-B74","doi-asserted-by":"publisher","first-page":"E363","DOI":"10.1210\/jc.2010-0511","article-title":"Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene","volume":"95","author":"Van Duyvenvoorde","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2026030304113931500_lvag038-B75","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1038\/s41572-023-00443-4","article-title":"Imprinting disorders","volume":"9","author":"Eggermann","year":"2023","journal-title":"Nat Rev Dis Primers"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ejendo\/advance-article-pdf\/doi\/10.1093\/ejendo\/lvag038\/66992303\/lvag038.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/194\/2\/285\/66992303\/lvag038.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/194\/2\/285\/66992303\/lvag038.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T09:16:00Z","timestamp":1772529360000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/194\/2\/285\/8490587"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":75,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2,4]]}},"URL":"https:\/\/doi.org\/10.1093\/ejendo\/lvag038","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,2]]},"published":{"date-parts":[[2026,2]]}}}