{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T20:33:11Z","timestamp":1788294791431,"version":"build-2803163510"},"reference-count":47,"publisher":"The Endocrine Society","issue":"6","funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2013\/03236\u20135"],"award-info":[{"award-number":["2013\/03236\u20135"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2015\/26980-7"],"award-info":[{"award-number":["2015\/26980-7"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["304678\/2012\u20130"],"award-info":[{"award-number":["304678\/2012\u20130"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["001"],"award-info":[{"award-number":["001"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,6,1]]},"DOI":"10.1210\/jc.2018-01971","type":"journal-article","created":{"date-parts":[[2019,1,2]],"date-time":"2019-01-02T19:08:41Z","timestamp":1546456121000},"page":"2023-2030","source":"Crossref","is-referenced-by-count":69,"title":["Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature"],"prefix":"10.1210","volume":"104","author":[{"given":"Bruna L","family":"Freire","sequence":"first","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica, Laborat\u00f3rio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo CEP, Brazil"},{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo CEP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thais K","family":"Homma","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica, Laborat\u00f3rio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo CEP, Brazil"},{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo CEP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana F A","family":"Funari","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo CEP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f4nio M","family":"Lerario","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela A","family":"Vasques","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica, Laborat\u00f3rio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo CEP, Brazil"},{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo CEP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexsandra C","family":"Malaquias","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica, Laborat\u00f3rio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo CEP, Brazil"},{"name":"Unidade de Endocrinologia Pedi\u00e1trica, Departamento de Pediatria, Irmandade da Santa Casa de Miseric\u00f3rdia de S\u00e3o Paulo, Faculdade de Ci\u00eancias M\u00e9dicas da Santa Casa de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo J P","family":"Arnhold","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo CEP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2567-7360","authenticated-orcid":false,"given":"Alexander A L","family":"Jorge","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica, Laborat\u00f3rio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo CEP, Brazil"},{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo CEP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,1,2]]},"reference":[{"issue":"6 Pt 1","key":"2019041706430026900_B1","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1542\/peds.111.6.1253","article-title":"International Small for Gestational Age Advisory Board consensus development conference statement: management of short children born small for gestational age, April 24-October 1, 2001","volume":"111","author":"Lee","year":"2003","journal-title":"Pediatrics"},{"issue":"6","key":"2019041706430026900_B2","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1210\/er.2018-00083","article-title":"Children born small for gestational age: differential diagnosis, molecular-genetic evaluation and implications","volume":"39","author":"Finken","year":"2018","journal-title":"Endocr Rev"},{"issue":"1","key":"2019041706430026900_B3","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1186\/1471-2431-11-66","article-title":"Latin American consensus: children born small for gestational age","volume":"11","author":"Boguszewski","year":"2011","journal-title":"BMC Pediatr"},{"issue":"7640","key":"2019041706430026900_B4","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"},{"issue":"4","key":"2019041706430026900_B5","doi-asserted-by":"crossref","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"},{"issue":"6","key":"2019041706430026900_B6","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1111\/cen.12791","article-title":"Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature","volume":"83","author":"Fujimoto","year":"2015","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"10","key":"2019041706430026900_B7","doi-asserted-by":"crossref","first-page":"3932","DOI":"10.1210\/jc.2013-2491","article-title":"Bloom syndrome in short children born small for gestational age: a challenging diagnosis","volume":"98","author":"Renes","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2019041706430026900_B8","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":"Horm Res Paediatr"},{"issue":"5","key":"2019041706430026900_B9","doi-asserted-by":"crossref","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":"6","key":"2019041706430026900_B10","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1159\/000355409","article-title":"Association analysis of ten candidate genes in a large multinational cohort of small for gestational age children and children with idiopathic short stature (NESTEGG study)","volume":"80","author":"de Graaff","year":"2013","journal-title":"Horm Res Paediatr"},{"issue":"12","key":"2019041706430026900_B11","doi-asserted-by":"crossref","first-page":"4717","DOI":"10.1210\/jc.2008-1502","article-title":"Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype","volume":"94","author":"Ester","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2019041706430026900_B12","first-page":"113","article-title":"IGF1R mutation analysis in short children with Silver-Russell syndrome features","volume":"2","author":"Soellner","year":"2013","journal-title":"J Pediatr Genet"},{"issue":"6","key":"2019041706430026900_B13","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1159\/000464143","article-title":"Expanding genetic and functional diagnoses of IGF1R haploinsufficiencies","volume":"87","author":"Ocaranza","year":"2017","journal-title":"Horm Res Paediatr"},{"issue":"6","key":"2019041706430026900_B14","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":"Genet Med"},{"issue":"8","key":"2019041706430026900_B15","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1038\/gim.2016.221","article-title":"Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement","volume":"19","author":"Stark","year":"2017","journal-title":"Genet Med"},{"issue":"6","key":"2019041706430026900_B16","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1111\/cge.13038","article-title":"High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing","volume":"92","author":"Kim","year":"2017","journal-title":"Clin Genet"},{"issue":"1","key":"2019041706430026900_B17","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":"Horm Res Paediatr"},{"issue":"6","key":"2019041706430026900_B18","doi-asserted-by":"crossref","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"},{"issue":"1","key":"2019041706430026900_B19","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1186\/1471-2431-13-59","article-title":"A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants","volume":"13","author":"Fenton","year":"2013","journal-title":"BMC Pediatr"},{"issue":"9","key":"2019041706430026900_B20","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1001\/archpedi.1987.04460090024014","article-title":"Minor malformations: significant or insignificant","volume":"141","author":"Hoyme","year":"1987","journal-title":"Am J Dis Child"},{"issue":"2","key":"2019041706430026900_B21","doi-asserted-by":"crossref","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":"2","key":"2019041706430026900_B22","doi-asserted-by":"crossref","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":"8","key":"2019041706430026900_B23","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1136\/adc.2004.050799","article-title":"Nationwide age references for sitting height, leg length, and sitting height\/height ratio, and their diagnostic value for disproportionate growth disorders","volume":"90","author":"Fredriks","year":"2005","journal-title":"Arch Dis Child"},{"issue":"314","key":"2019041706430026900_B24","first-page":"1","article-title":"CDC growth charts: United States","author":"Kuczmarski","year":"2000","journal-title":"Adv Data"},{"key":"2019041706430026900_B25","author":"Greulich"},{"key":"2019041706430026900_B26","unstructured":"Freire BL , HommaTK, FunariMFA, LerarioAM, VasquesGA, MalaquiasAC, ArnholdIJP, JorgeAAL. Data from: Multigene sequencing analysis of children born small for gestational age with isolated short stature. Research Gate 2018. Deposited September 2018. https:\/\/doi.org\/10.13140\/RG.2.2.24760.39681."},{"issue":"2","key":"2019041706430026900_B27","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":"Eur J Endocrinol"},{"issue":"5","key":"2019041706430026900_B28","doi-asserted-by":"crossref","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"},{"key":"2019041706430026900_B29","unstructured":"Freire BL , HommaTK, FunariMFA, LerarioAM, VasquesGA, MalaquiasAC, ArnholdIJP, JorgeAAL . Data from: Multigene sequencing analysis of children born small for gestational age with isolated short stature. Research Gate 2018. Deposited October 2018. https:\/\/doi.org\/10.13140\/RG.2.2.19924.65929\/1."},{"issue":"5","key":"2019041706430026900_B30","doi-asserted-by":"crossref","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":"6","key":"2019041706430026900_B31","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":"Horm Res Paediatr"},{"issue":"8","key":"2019041706430026900_B32","doi-asserted-by":"crossref","first-page":"E1428","DOI":"10.1210\/jc.2013-1534","article-title":"Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature","volume":"98","author":"Wang","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2019041706430026900_B33","doi-asserted-by":"crossref","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":"8","key":"2019041706430026900_B34","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1210\/js.2017-00229","article-title":"Aggrecan mutations in nonfamilial short stature and short stature without accelerated skeletal maturation","volume":"1","author":"Tatsi","year":"2017","journal-title":"J Endocr Soc"},{"issue":"10","key":"2019041706430026900_B35","doi-asserted-by":"crossref","first-page":"E1636","DOI":"10.1210\/jc.2013-2142","article-title":"Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature","volume":"98","author":"Vasques","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2019041706430026900_B36","doi-asserted-by":"crossref","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":"4","key":"2019041706430026900_B37","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1210\/er.2016-1036","article-title":"A track record on SHOX: from basic research to complex models and therapy","volume":"37","author":"Marchini","year":"2016","journal-title":"Endocr Rev"},{"issue":"10","key":"2019041706430026900_B38","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1507\/endocrj.EJ17-0150","article-title":"Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature","volume":"64","author":"Hattori","year":"2017","journal-title":"Endocr J"},{"issue":"4","key":"2019041706430026900_B39","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":"Horm Res Paediatr"},{"issue":"4","key":"2019041706430026900_B40","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":"Hum Mutat"},{"key":"2019041706430026900_B41","volume-title":"GeneReviews((R))","author":"Friedman","year":"1993"},{"issue":"9863","key":"2019041706430026900_B42","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S0140-6736(12)61023-X","article-title":"Noonan syndrome","volume":"381","author":"Roberts","year":"2013","journal-title":"Lancet"},{"issue":"4","key":"2019041706430026900_B43","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/humu.23175","article-title":"Structural, functional, and clinical characterization of a novel PTPN11 mutation cluster underlying Noonan syndrome","volume":"38","author":"Pannone","year":"2017","journal-title":"Hum Mutat"},{"issue":"8","key":"2019041706430026900_B44","doi-asserted-by":"crossref","first-page":"E1383","DOI":"10.1210\/jc.2013-1222","article-title":"GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial","volume":"98","author":"Blum","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2019041706430026900_B45","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1038\/s41431-018-0099-1","article-title":"Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders","volume":"26","author":"Dillon","year":"2018","journal-title":"Eur J Hum Genet"},{"issue":"9","key":"2019041706430026900_B46","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1038\/s41431-018-0175-6","article-title":"Economic evaluation of genomic sequencing in the paediatric population: a critical review","volume":"26","author":"Alam","year":"2018","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"2019041706430026900_B47","doi-asserted-by":"crossref","first-page":"G1","DOI":"10.1530\/EJE-17-0430","article-title":"Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting","volume":"177","author":"Gravholt","year":"2017","journal-title":"Eur J Endocrinol"}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/104\/6\/2023\/28477005\/jc.2018-01971.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,21]],"date-time":"2020-11-21T11:52:36Z","timestamp":1605959556000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/104\/6\/2023\/5266855"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,2]]},"references-count":47,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2019,1,2]]},"published-print":{"date-parts":[[2019,6,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2018-01971","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,6]]},"published":{"date-parts":[[2019,1,2]]}}}