{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:57:09Z","timestamp":1791230229462,"version":"4.1.0"},"reference-count":22,"publisher":"The Endocrine Society","issue":"11","funder":[{"name":"Shanghai Key Laboratory of Birth Defect, Children's Hospital of Fudan University new developing project","award":["2014-2015"],"award-info":[{"award-number":["2014-2015"]}]},{"DOI":"10.13039\/501100003399","name":"Shanghai Science and Technology Committee","doi-asserted-by":"crossref","award":["12DZ1931502"],"award-info":[{"award-number":["12DZ1931502"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Minhang District Talented Development Foundation and the Development Project of Shanghai Peak Disciplines-Integrated Chinese and Western Medicine","award":["2015"],"award-info":[{"award-number":["2015"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,11,1]]},"DOI":"10.1210\/jc.2017-02782","type":"journal-article","created":{"date-parts":[[2018,7,20]],"date-time":"2018-07-20T14:09:23Z","timestamp":1532095763000},"page":"3939-3944","source":"Crossref","is-referenced-by-count":24,"title":["IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations"],"prefix":"10.1210","volume":"103","author":[{"given":"Lin","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children\u2019s Hospital of Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan-dan","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children\u2019s Hospital of Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng-jun","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children\u2019s Hospital of Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children\u2019s Hospital of Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-yan","family":"Wei","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Affiliated to Zhengzhou University, Zhengzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Genetics and Metabolism, The Children\u2019s Hospital of Guiyang City, Guiyang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao-ying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children\u2019s Hospital of Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei-hong","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children\u2019s Hospital of Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2018,7,20]]},"reference":[{"issue":"23","key":"2019041118365977600_B1","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 Engl J Med"},{"issue":"8","key":"2019041118365977600_B2","doi-asserted-by":"crossref","first-page":"4679","DOI":"10.1210\/jc.2004-1947","article-title":"Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation","volume":"90","author":"Kawashima","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"2019041118365977600_B3","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":"Hum Mutat"},{"issue":"2","key":"2019041118365977600_B4","first-page":"97","article-title":"Chinese neonatal birth weight curve for different gestational age [in Chinese]","volume":"53","author":"Zhu","year":"2015","journal-title":"Zhonghua Er Ke Za Zhi"},{"issue":"3","key":"2019041118365977600_B5","first-page":"173","article-title":"Growth standardized values and curves based on weight, length\/height and head circumference for Chinese children under 7 years of age [in Chinese]","volume":"47","author":"Li","year":"2009","journal-title":"Zhonghua Er Ke Za Zhi"},{"issue":"9","key":"2019041118365977600_B6","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1507\/endocrj.EJ12-0110","article-title":"Standardized centile curves and reference intervals of serum insulin-like growth factor-I (IGF-I) levels in a normal Japanese population using the LMS method","volume":"59","author":"Isojima","year":"2012","journal-title":"Endocr J"},{"issue":"2","key":"2019041118365977600_B7","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1530\/EJE-14-0541","article-title":"Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation","volume":"172","author":"Storr","year":"2015","journal-title":"Eur J Endocrinol"},{"issue":"5","key":"2019041118365977600_B8","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1111\/cen.12555","article-title":"Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment","volume":"82","author":"Juanes","year":"2015","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"6","key":"2019041118365977600_B9","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"},{"issue":"2","key":"2019041118365977600_B10","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1111\/cen.12317","article-title":"Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation","volume":"81","author":"Kawashima","year":"2014","journal-title":"Clin Endocrinol"},{"issue":"8","key":"2019041118365977600_B11","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":"4","key":"2019041118365977600_B12","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1111\/cen.12048","article-title":"Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp)","volume":"78","author":"Leal","year":"2013","journal-title":"Clin Endocrinol"},{"issue":"2","key":"2019041118365977600_B13","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1111\/j.1365-2265.2012.04481.x","article-title":"Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene","volume":"78","author":"Labarta","year":"2013","journal-title":"Clin Endocrinol"},{"issue":"2","key":"2019041118365977600_B14","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1111\/j.1365-2265.2012.04357.x","article-title":"Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation","volume":"77","author":"Kawashima","year":"2012","journal-title":"Clin Endocrinol"},{"issue":"2","key":"2019041118365977600_B15","doi-asserted-by":"crossref","first-page":"E243","DOI":"10.1210\/jc.2011-2142","article-title":"Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R)","volume":"97","author":"Fang","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2019041118365977600_B16","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1159\/000324957","article-title":"An insulin-like growth factor-I receptor defect associated with short stature and impaired carbohydrate homeostasis in an Italian pedigree","volume":"76","author":"Mohn","year":"2011","journal-title":"Horm Res Paediatr"},{"issue":"1","key":"2019041118365977600_B17","doi-asserted-by":"crossref","first-page":"E130","DOI":"10.1210\/jc.2010-1789","article-title":"Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure","volume":"96","author":"Choi","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2019041118365977600_B18","doi-asserted-by":"crossref","first-page":"2316","DOI":"10.1210\/jc.2009-2404","article-title":"A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation","volume":"95","author":"Wallborn","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2019041118365977600_B19","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1210\/jc.2009-1433","article-title":"Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation","volume":"95","author":"Kruis","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2019041118365977600_B20","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1210\/jc.2008-1903","article-title":"Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay","volume":"94","author":"Fang","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2019041118365977600_B21","doi-asserted-by":"crossref","first-page":"2264","DOI":"10.1210\/jc.2005-2146","article-title":"Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R","volume":"91","author":"Raile","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2019041118365977600_B22","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1210\/jc.2008-1903","article-title":"Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay","volume":"94","author":"Fang","year":"2009","journal-title":"J Clin Endocrinol Metab"}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/103\/11\/3939\/26003486\/jc.2017-02782.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,12]],"date-time":"2019-04-12T02:36:16Z","timestamp":1555036576000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/103\/11\/3939\/5056323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,20]]},"references-count":22,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2018,7,20]]},"published-print":{"date-parts":[[2018,11,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2017-02782","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,11]]},"published":{"date-parts":[[2018,7,20]]}}}