{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:18:23Z","timestamp":1789431503181,"version":"build-2803163510"},"reference-count":33,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Basic Research Program of China","doi-asserted-by":"publisher","award":["2017YFC1001704"],"award-info":[{"award-number":["2017YFC1001704"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1016\/j.ejmg.2018.09.009","type":"journal-article","created":{"date-parts":[[2018,9,25]],"date-time":"2018-09-25T16:18:58Z","timestamp":1537892338000},"page":"103542","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants"],"prefix":"10.1016","volume":"62","author":[{"given":"Yi","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongxiao","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lulu","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinqing","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haixia","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanling","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2018.09.009_bib1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ng880","article-title":"AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34","volume":"31","author":"Agarwal","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2018.09.009_bib2","doi-asserted-by":"crossref","first-page":"4840","DOI":"10.1210\/jc.2003-030855","article-title":"Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy","volume":"88","author":"Agarwal","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ejmg.2018.09.009_bib3","doi-asserted-by":"crossref","first-page":"2759","DOI":"10.1210\/jc.2016-1005","article-title":"Natural history of congenital generalized lipodystrophy: a nationwide study from Turkey","volume":"101","author":"Akinci","year":"2016","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ejmg.2018.09.009_bib4","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1210\/jcem-14-2-193","article-title":"An undiagnosed endocrinometabolic syndrome: report of 2 cases","volume":"14","author":"Berardinelli","year":"1954","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ejmg.2018.09.009_bib5","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1007\/s40265-013-0074-7","article-title":"Metreleptin: first global approval","volume":"73","author":"Chou","year":"2013","journal-title":"Drugs"},{"key":"10.1016\/j.ejmg.2018.09.009_bib6","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.ymgme.2013.04.011","article-title":"Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy","volume":"109","author":"Debray","year":"2013","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.ejmg.2018.09.009_bib7","first-page":"1036","article-title":"Congenital generalized lipodystrophy in a 4 year old Chinese girl","volume":"42","author":"Dong","year":"2005","journal-title":"Indian Pediatr."},{"key":"10.1016\/j.ejmg.2018.09.009_bib8","series-title":"Innovative Medicine: Basic Research and Development [Internet]","article-title":"Translational research of leptin in lipodystrophy and its related diseases","author":"Ebihara","year":"2015"},{"key":"10.1016\/j.ejmg.2018.09.009_bib9","doi-asserted-by":"crossref","first-page":"2916","DOI":"10.1210\/jc.2003-030485","article-title":"Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects","volume":"9","author":"Fu","year":"2004","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ejmg.2018.09.009_bib10","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1056\/NEJMra025261","article-title":"Acquired and inherited lipodystrophies","volume":"350","author":"Garg","year":"2004","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ejmg.2018.09.009_bib11","series-title":"Dyslipidemias: Pathophysiology, Evaluation and Management","first-page":"287","article-title":"Lipodystrophies and dyslipidemias","author":"Garg","year":"2015"},{"key":"10.1016\/j.ejmg.2018.09.009_bib12","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1136\/jmedgenet-2013-101525","article-title":"A new seipin-associated neurodegenerative syndrome","volume":"50","author":"Guill\u00e9n-Navarro","year":"2013","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.09.009_bib13","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1016\/j.ejmg.2012.07.011","article-title":"Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1","volume":"55","author":"Haghighi","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.09.009_bib14","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1111\/cge.12623","article-title":"Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum","volume":"89","author":"Haghighi","year":"2016","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2018.09.009_bib15","doi-asserted-by":"crossref","first-page":"107","DOI":"10.4158\/endp.19.1.v767575m65p5mr06","article-title":"The clinical approach to the detection of lipodystrophy - an AACE consensus statement","volume":"19","author":"Handelsman","year":"2013","journal-title":"Endocr. Pract."},{"key":"10.1016\/j.ejmg.2018.09.009_bib16","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/j.bbrc.2004.12.024","article-title":"Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy","volume":"327","author":"Haque","year":"2005","journal-title":"Biochem. Bioph. Res. Co."},{"key":"10.1016\/j.ejmg.2018.09.009_bib17","doi-asserted-by":"crossref","first-page":"2623","DOI":"10.1172\/JCI38660","article-title":"Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy","volume":"119","author":"Hayashi","year":"2009","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ejmg.2018.09.009_bib18","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/S1607-551X(10)70094-2","article-title":"A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene","volume":"26","author":"Huang","year":"2010","journal-title":"Kaohsiung J. Med. Sci."},{"key":"10.1016\/j.ejmg.2018.09.009_bib19","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1530\/EJE-07-0393","article-title":"Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus","volume":"157","author":"Jin","year":"2007","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.ejmg.2018.09.009_bib20","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1210\/jc.2007-1328","article-title":"Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy","volume":"93","author":"Kim","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ejmg.2018.09.009_bib21","doi-asserted-by":"crossref","first-page":"D944","DOI":"10.2741\/Leung","article-title":"The structure and functions of human lysophosphatidic acid acyltransferases","volume":"6","author":"Leung","year":"2001","journal-title":"Front. Biosci."},{"key":"10.1016\/j.ejmg.2018.09.009_bib22","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","volume":"47","author":"Li","year":"2009","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"10.1016\/j.ejmg.2018.09.009_bib23","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1038\/ng585","article-title":"Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13","volume":"28","author":"Magr\u00e9","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2018.09.009_bib24","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.2337\/diabetes.52.6.1573","article-title":"Prevalence of mutations in APGAT2 among human lipodystrophies","volume":"52","author":"Magr\u00e9","year":"2003","journal-title":"Diabetes"},{"key":"10.1016\/j.ejmg.2018.09.009_bib25","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/j.1365-2265.2009.03532.x","article-title":"Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome","volume":"71","author":"Miranda","year":"2009","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.ejmg.2018.09.009_bib26","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/nrendo.2015.123","article-title":"Congenital generalized lipodystrophies--new insights into metabolic dysfunction","volume":"11","author":"Patni","year":"2015","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.ejmg.2018.09.009_bib27","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.2337\/db08-0184","article-title":"The human lipodystrophy gene BSCL2\/seipin may be essential for normal adipocyte differentiation","volume":"57","author":"Payne","year":"2008","journal-title":"Diabetes"},{"key":"10.1016\/j.ejmg.2018.09.009_bib28","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000874","article-title":"Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations","volume":"6","author":"Rajab","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ejmg.2018.09.009_bib30","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1111\/j.1651-2227.1959.tb16421.x","article-title":"Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?","volume":"48","author":"Seip","year":"1959","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.ejmg.2018.09.009_bib31","doi-asserted-by":"crossref","first-page":"5433","DOI":"10.1210\/jc.2003-030835","article-title":"Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or Seipin genes","volume":"88","author":"Simha","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ejmg.2018.09.009_bib32","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1097\/MOL.0b013e32832d4a33","article-title":"Inherited lipodystrophies and hypertriglyceridemia","volume":"20","author":"Simha","year":"2009","journal-title":"Curr. Opin. Lipidol."},{"key":"10.1016\/j.ejmg.2018.09.009_bib33","doi-asserted-by":"crossref","first-page":"52","DOI":"10.4274\/jcrpe.3556","article-title":"Clinical and mutational features of three Chinese children with congenital generalized lipodystrophy","volume":"9","author":"Su","year":"2017","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"10.1016\/j.ejmg.2018.09.009_bib34","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1136\/jmg.39.10.722","article-title":"Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy","volume":"39","author":"Van Maldergem","year":"2002","journal-title":"J. Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218303458?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218303458?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:47:19Z","timestamp":1761709639000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721218303458"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":33,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["S1769721218303458"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.09.009","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.09.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"103542"}}