Berardinelli-Seip congenital lipodystrophy.

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dc.contributor.authorMandal, Kausiken_US
dc.contributor.authorAneja, Sen_US
dc.contributor.authorSeth, Aen_US
dc.contributor.authorKhan, Anamitaen_US
dc.date.accessioned2006-05-01en_US
dc.date.accessioned2009-05-27T05:07:44Z
dc.date.available2006-05-01en_US
dc.date.available2009-05-27T05:07:44Z
dc.date.issued2006-05-01en_US
dc.description.abstractBerardinelli-Seip congenital lipodystrophy (BSCL) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. On the basis of mutational and haplotype analysis, BSCL families have been classified into three types BSCL 1, BSCL2 and BSCLX. We report Berardinelli-Seip congenital lipodystrophy (BSCL2 type) in three subjects from two unrelated Indian families (family1 and family2). The mutation (c.IVS2 11 A GT G ) found in affected members of family1 is a newly identified mutation. We also report the association of renal anomaly with this new mutation.en_US
dc.description.affiliationDepartment of Pediatrics and Dermato-logy, Kalawati Saran Childrens Hospital, New Delhi 110 001, India. kaushik_pediatrics@yahoo.co.uken_US
dc.identifier.citationMandal K, Aneja S, Seth A, Khan A. Berardinelli-Seip congenital lipodystrophy. Indian Pediatrics. 2006 May; 43(5): 440-5en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/8434
dc.language.isoengen_US
dc.source.urihttps://indianpediatrics.neten_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshDiabetes Mellitus, Lipoatrophic --geneticsen_US
dc.subject.meshDiseases in Twins --geneticsen_US
dc.subject.meshGTP-Binding Protein gamma Subunits --geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshKidney Diseases --geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMutation --geneticsen_US
dc.subject.meshTwinsen_US
dc.titleBerardinelli-Seip congenital lipodystrophy.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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