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Article

Berardinelli-Seip congenital lipodystrophy.

Indian pediatrics - 1 May 2006

Mandal Kausik, Aneja S, Seth A, Khan Anamita

Abstract excerpt

Berardinelli-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...

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Identifiers

PMID: 16735770

Genes

BSCL2

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