{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T15:03:33Z","timestamp":1790003013068,"version":"4.0.1"},"reference-count":71,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","theclinics.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Endocrinology and Metabolism Clinics of North America"],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.1016\/j.ecl.2017.01.012","type":"journal-article","created":{"date-parts":[[2017,2,22]],"date-time":"2017-02-22T16:30:21Z","timestamp":1487781021000},"page":"539-554","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":65,"title":["Genetics of Lipodystrophy"],"prefix":"10.1016","volume":"46","author":[{"given":"Marissa","family":"Lightbourne","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca J.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"12","key":"10.1016\/j.ecl.2017.01.012_bib1","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\u00a0Engl J Med"},{"key":"10.1016\/j.ecl.2017.01.012_bib2","series-title":"Leptin: regulation and clinical applications","first-page":"225","article-title":"Leptin therapy in patients with lipodystrophy and syndromic insulin resistance","author":"Brown","year":"2015"},{"issue":"2","key":"10.1016\/j.ecl.2017.01.012_bib3","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1210\/jcem-14-2-193","article-title":"An undiagnosed endocrinometabolic syndrome\u2014report of 2 cases","volume":"14","author":"Berardinelli","year":"1954","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.ecl.2017.01.012_bib4","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"},{"issue":"10","key":"10.1016\/j.ecl.2017.01.012_bib5","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\u00a0Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.ecl.2017.01.012_bib6","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"},{"issue":"4","key":"10.1016\/j.ecl.2017.01.012_bib7","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":"Magre","year":"2001","journal-title":"Nat Genet"},{"issue":"4","key":"10.1016\/j.ecl.2017.01.012_bib8","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\u00a0Clin Endocrinol Metab"},{"issue":"9","key":"10.1016\/j.ecl.2017.01.012_bib9","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\u00a0Clin Invest"},{"issue":"11","key":"10.1016\/j.ecl.2017.01.012_bib10","doi-asserted-by":"crossref","first-page":"3313","DOI":"10.1210\/jc.2011-1159","article-title":"Clinical review: Lipodystrophies: genetic and acquired body fat disorders","volume":"96","author":"Garg","year":"2011","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"7","key":"10.1016\/j.ecl.2017.01.012_bib11","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\u00a0Clin Endocrinol Metab"},{"issue":"10","key":"10.1016\/j.ecl.2017.01.012_bib12","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\u00a0Med Genet"},{"issue":"1","key":"10.1016\/j.ecl.2017.01.012_bib13","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.jhep.2013.02.007","article-title":"The liver diseases of lipodystrophy: the long-term effect of leptin treatment","volume":"59","author":"Safar Zadeh","year":"2013","journal-title":"J\u00a0Hepatol"},{"issue":"6","key":"10.1016\/j.ecl.2017.01.012_bib14","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/BF00241817","article-title":"The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy","volume":"21","author":"Fleckenstein","year":"1992","journal-title":"Skeletal Radiol"},{"key":"10.1016\/j.ecl.2017.01.012_bib15","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"},{"issue":"4","key":"10.1016\/j.ecl.2017.01.012_bib16","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1034\/j.1399-0004.2002.610407.x","article-title":"Cardiomyopathy in congenital complete lipodystrophy","volume":"61","author":"Bhayana","year":"2002","journal-title":"Clin Genet"},{"issue":"4","key":"10.1016\/j.ecl.2017.01.012_bib17","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/BF00441777","article-title":"Echocardiographic assessment of cardiac function and morphology in patients with generalised lipodystrophy","volume":"144","author":"Bjornstad","year":"1985","journal-title":"Eur J Pediatr"},{"issue":"52","key":"10.1016\/j.ecl.2017.01.012_bib18","doi-asserted-by":"crossref","first-page":"20890","DOI":"10.1073\/pnas.0704154104","article-title":"The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology","volume":"104","author":"Szymanski","year":"2007","journal-title":"Proc Natl Acad Sci U\u00a0S\u00a0A"},{"issue":"9","key":"10.1016\/j.ecl.2017.01.012_bib19","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/nrendo.2015.123","article-title":"Congenital generalized lipodystrophies\u2013new insights into metabolic dysfunction","volume":"11","author":"Patni","year":"2015","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.ecl.2017.01.012_bib20","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/1476-511X-7-3","article-title":"Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia","volume":"7","author":"Cao","year":"2008","journal-title":"Lipids Health Dis"},{"issue":"8","key":"10.1016\/j.ecl.2017.01.012_bib21","doi-asserted-by":"crossref","first-page":"1796","DOI":"10.1002\/ajmg.a.37115","article-title":"Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome","volume":"167A","author":"Garg","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"7","key":"10.1016\/j.ecl.2017.01.012_bib22","doi-asserted-by":"crossref","first-page":"e0131797","DOI":"10.1371\/journal.pone.0131797","article-title":"A\u00a0frame-shift mutation in CAV1 is associated with a severe neonatal progeroid and lipodystrophy syndrome","volume":"10","author":"Schrauwen","year":"2015","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.ecl.2017.01.012_bib23","doi-asserted-by":"crossref","first-page":"e1000874","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"},{"issue":"8","key":"10.1016\/j.ecl.2017.01.012_bib24","doi-asserted-by":"crossref","first-page":"E1410","DOI":"10.1210\/jc.2013-1297","article-title":"Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety","volume":"98","author":"Ji","year":"2013","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.ecl.2017.01.012_bib25","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1093\/qjmed\/90.1.27","article-title":"Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy","volume":"90","author":"Jackson","year":"1997","journal-title":"QJM"},{"issue":"6","key":"10.1016\/j.ecl.2017.01.012_bib26","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1210\/jc.2007-2521","article-title":"Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy","volume":"93","author":"Vantyghem","year":"2008","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"18","key":"10.1016\/j.ecl.2017.01.012_bib27","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.1161\/01.CIR.103.18.2225","article-title":"Premature atherosclerosis associated with monogenic insulin resistance","volume":"103","author":"Hegele","year":"2001","journal-title":"Circulation"},{"issue":"9","key":"10.1016\/j.ecl.2017.01.012_bib28","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.1161\/ATVBAHA.113.301933","article-title":"Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in\u00a0vitro endothelial dysfunction","volume":"33","author":"Bidault","year":"2013","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"6","key":"10.1016\/j.ecl.2017.01.012_bib29","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.2337\/diacare.26.6.1819","article-title":"Kobberling type of familial partial lipodystrophy: an underrecognized syndrome","volume":"26","author":"Herbst","year":"2003","journal-title":"Diabetes Care"},{"issue":"2","key":"10.1016\/j.ecl.2017.01.012_bib30","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1136\/jmg.23.2.120","article-title":"Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state","volume":"23","author":"Kobberling","year":"1986","journal-title":"J\u00a0Med Genet"},{"issue":"2","key":"10.1016\/j.ecl.2017.01.012_bib31","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/72807","article-title":"LMNA, encoding lamin A\/C, is mutated in partial lipodystrophy","volume":"24","author":"Shackleton","year":"2000","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.ecl.2017.01.012_bib32","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1093\/hmg\/9.1.109","article-title":"Nuclear lamin A\/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy","volume":"9","author":"Cao","year":"2000","journal-title":"Hum Mol Genet"},{"issue":"5","key":"10.1016\/j.ecl.2017.01.012_bib33","doi-asserted-by":"crossref","first-page":"2289","DOI":"10.1210\/jcem.86.5.7500","article-title":"Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene","volume":"86","author":"Schmidt","year":"2001","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"4","key":"10.1016\/j.ecl.2017.01.012_bib34","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1086\/302836","article-title":"Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A\/C","volume":"66","author":"Speckman","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.ecl.2017.01.012_bib35","first-page":"408","article-title":"A\u00a0novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy","volume":"87","author":"Agarwal","year":"2002","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"12","key":"10.1016\/j.ecl.2017.01.012_bib36","doi-asserted-by":"crossref","first-page":"3586","DOI":"10.2337\/diabetes.51.12.3586","article-title":"PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy","volume":"51","author":"Hegele","year":"2002","journal-title":"Diabetes"},{"issue":"4","key":"10.1016\/j.ecl.2017.01.012_bib37","doi-asserted-by":"crossref","first-page":"910","DOI":"10.2337\/diabetes.52.4.910","article-title":"Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma","volume":"52","author":"Savage","year":"2003","journal-title":"Diabetes"},{"issue":"6764","key":"10.1016\/j.ecl.2017.01.012_bib38","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/47254","article-title":"Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension","volume":"402","author":"Barroso","year":"1999","journal-title":"Nature"},{"issue":"S1","key":"10.1016\/j.ecl.2017.01.012_bib39","doi-asserted-by":"crossref","first-page":"S31","DOI":"10.1038\/sj.ijo.0802911","article-title":"Lessons from human mutations in PPAR[gamma]","volume":"29","author":"Hegele","year":"2005","journal-title":"Int J Obes Relat Metab Disord"},{"issue":"4","key":"10.1016\/j.ecl.2017.01.012_bib40","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/S1097-2765(00)80211-7","article-title":"PPAR gamma is required for the differentiation of adipose tissue in\u00a0vivo and in\u00a0vitro","volume":"4","author":"Rosen","year":"1999","journal-title":"Mol Cell"},{"issue":"8","key":"10.1016\/j.ecl.2017.01.012_bib41","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1056\/NEJMoa1007487","article-title":"Perilipin deficiency and autosomal dominant partial lipodystrophy","volume":"364","author":"Gandotra","year":"2011","journal-title":"N\u00a0Engl J Med"},{"issue":"5","key":"10.1016\/j.ecl.2017.01.012_bib42","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/emmm.200900037","article-title":"Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC","volume":"1","author":"Rubio-Cabezas","year":"2009","journal-title":"EMBO Mol Med"},{"issue":"24","key":"10.1016\/j.ecl.2017.01.012_bib43","doi-asserted-by":"crossref","first-page":"2307","DOI":"10.1056\/NEJMoa1315496","article-title":"Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes","volume":"370","author":"Albert","year":"2014","journal-title":"N\u00a0Engl J Med"},{"issue":"12","key":"10.1016\/j.ecl.2017.01.012_bib44","first-page":"1649","article-title":"A\u00a0novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy","volume":"30","author":"Farhan","year":"2014","journal-title":"Can J Cardiol"},{"issue":"5675","key":"10.1016\/j.ecl.2017.01.012_bib45","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1126\/science.1096706","article-title":"A\u00a0family with severe insulin resistance and diabetes due to a mutation in AKT2","volume":"304","author":"George","year":"2004","journal-title":"Science"},{"issue":"2","key":"10.1016\/j.ecl.2017.01.012_bib46","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1097\/00005792-200303000-00007","article-title":"Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature","volume":"82","author":"Misra","year":"2003","journal-title":"Medicine (Baltimore)"},{"issue":"1","key":"10.1016\/j.ecl.2017.01.012_bib47","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1097\/01.md.0000111061.69212.59","article-title":"Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature","volume":"83","author":"Misra","year":"2004","journal-title":"Medicine (Baltimore)"},{"issue":"1","key":"10.1016\/j.ecl.2017.01.012_bib48","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1210\/jc.2008-1703","article-title":"Complement abnormalities in acquired lipodystrophy revisited","volume":"94","author":"Savage","year":"2009","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"2","key":"10.1016\/j.ecl.2017.01.012_bib49","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1086\/505885","article-title":"Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy","volume":"79","author":"Hegele","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"6","key":"10.1016\/j.ecl.2017.01.012_bib50","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.ajhg.2010.10.031","article-title":"PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome","volume":"87","author":"Agarwal","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"36","key":"10.1016\/j.ecl.2017.01.012_bib51","doi-asserted-by":"crossref","first-page":"14914","DOI":"10.1073\/pnas.1106015108","article-title":"Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome","volume":"108","author":"Arima","year":"2011","journal-title":"Proc Natl Acad Sci U\u00a0S\u00a0A"},{"issue":"3","key":"10.1016\/j.ecl.2017.01.012_bib52","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1002\/art.33368","article-title":"Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity","volume":"64","author":"Liu","year":"2012","journal-title":"Arthritis Rheum"},{"issue":"9","key":"10.1016\/j.ecl.2017.01.012_bib53","doi-asserted-by":"crossref","first-page":"E58","DOI":"10.1210\/jc.2010-0488","article-title":"An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy","volume":"95","author":"Garg","year":"2010","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.ecl.2017.01.012_bib54","doi-asserted-by":"crossref","first-page":"114","DOI":"10.2478\/s11658-010-0038-9","article-title":"Laminopathies: the molecular background of the disease and the prospects for its treatment","volume":"16","author":"Zaremba-Czogalla","year":"2011","journal-title":"Cell Mol Biol Lett"},{"issue":"11","key":"10.1016\/j.ecl.2017.01.012_bib55","doi-asserted-by":"crossref","first-page":"5337","DOI":"10.1210\/jc.2003-031658","article-title":"Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities","volume":"89","author":"Vantyghem","year":"2004","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"5","key":"10.1016\/j.ecl.2017.01.012_bib56","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1210\/jc.2014-4491","article-title":"Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin","volume":"100","author":"Diker-Cohen","year":"2015","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"6937","key":"10.1016\/j.ecl.2017.01.012_bib57","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/nature01629","article-title":"Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome","volume":"423","author":"Eriksson","year":"2003","journal-title":"Nature"},{"issue":"5628","key":"10.1016\/j.ecl.2017.01.012_bib58","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1126\/science.1084125","article-title":"Lamin a truncation in Hutchinson-Gilford progeria","volume":"300","author":"De Sandre-Giovannoli","year":"2003","journal-title":"Science"},{"issue":"2","key":"10.1016\/j.ecl.2017.01.012_bib59","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1086\/341908","article-title":"Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A\/C","volume":"71","author":"Novelli","year":"2002","journal-title":"Am J Hum Genet"},{"issue":"16","key":"10.1016\/j.ecl.2017.01.012_bib60","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1093\/hmg\/ddg213","article-title":"Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia","volume":"12","author":"Agarwal","year":"2003","journal-title":"Hum Mol Genet"},{"issue":"9382","key":"10.1016\/j.ecl.2017.01.012_bib61","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/S0140-6736(03)14069-X","article-title":"LMNA mutations in atypical Werner's syndrome","volume":"362","author":"Chen","year":"2003","journal-title":"Lancet"},{"issue":"11","key":"10.1016\/j.ecl.2017.01.012_bib62","doi-asserted-by":"crossref","first-page":"2617","DOI":"10.1002\/ajmg.a.34249","article-title":"Nestor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations","volume":"155A","author":"Cabanillas","year":"2011","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ecl.2017.01.012_bib63","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1186\/1750-1172-8-106","article-title":"Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome","volume":"8","author":"Donadille","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"10.1016\/j.ecl.2017.01.012_bib64","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/0092-8674(95)90105-1","article-title":"The Bloom's syndrome gene product is homologous to RecQ helicases","volume":"83","author":"Ellis","year":"1995","journal-title":"Cell"},{"issue":"8","key":"10.1016\/j.ecl.2017.01.012_bib65","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1038\/ng.2670","article-title":"An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy","volume":"45","author":"Weedon","year":"2013","journal-title":"Nat Genet"},{"issue":"11","key":"10.1016\/j.ecl.2017.01.012_bib66","doi-asserted-by":"crossref","first-page":"2749","DOI":"10.1002\/ajmg.a.33690","article-title":"Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene","volume":"152A","author":"Graul-Neumann","year":"2010","journal-title":"Am J Med Genet A"},{"issue":"2","key":"10.1016\/j.ecl.2017.01.012_bib67","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.ajhg.2014.12.011","article-title":"Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6","volume":"96","author":"Masotti","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.ecl.2017.01.012_bib68","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/humu.21154","article-title":"Mutation update for the CSB\/ERCC6 and CSA\/ERCC8 genes involved in Cockayne syndrome","volume":"31","author":"Laugel","year":"2010","journal-title":"Hum Mutat"},{"issue":"11","key":"10.1016\/j.ecl.2017.01.012_bib69","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/ng.3103","article-title":"Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features","volume":"46","author":"Lessel","year":"2014","journal-title":"Nat Genet"},{"issue":"24","key":"10.1016\/j.ecl.2017.01.012_bib70","doi-asserted-by":"crossref","first-page":"8901","DOI":"10.1073\/pnas.1408523111","article-title":"Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease","volume":"111","author":"Payne","year":"2014","journal-title":"Proc Natl Acad Sci U\u00a0S\u00a0A"},{"issue":"1","key":"10.1016\/j.ecl.2017.01.012_bib71","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.ajhg.2013.05.019","article-title":"PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy","volume":"93","author":"Thauvin-Robinet","year":"2013","journal-title":"Am J Hum Genet"}],"container-title":["Endocrinology and Metabolism Clinics of North America"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0889852917300129?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0889852917300129?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:41:09Z","timestamp":1760175669000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0889852917300129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6]]},"references-count":71,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["S0889852917300129"],"URL":"https:\/\/doi.org\/10.1016\/j.ecl.2017.01.012","relation":{},"ISSN":["0889-8529"],"issn-type":[{"value":"0889-8529","type":"print"}],"subject":[],"published":{"date-parts":[[2017,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetics of Lipodystrophy","name":"articletitle","label":"Article Title"},{"value":"Endocrinology and Metabolism Clinics of North America","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ecl.2017.01.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}