A Taiwanese Boy With Congenital Generalized Lipodystrophy Caused by Homozygous Ile262fs Mutation in the BSCL2 Gene

A Taiwanese Boy With Congenital Generalized Lipodystrophy Caused by Homozygous Ile262fs Mutation in the BSCL2 Gene

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that is characterized by a near-complete absence of adipose tissue from birth or early infancy. Mutations in the BSCL2 gene are known to result in CGL2, a more severe phenotype than CGL1, with earlier onset, more extens...

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Bibliographic Details
Main Authors: Hsiu-Hui Huang, Tai-Heng Chen, Hui-Pin Hsiao, Chia-Tsuan Huang, Cheng-Chu Wang, Ya-Huei Shiau, Mei-Chyn Chao
Format: Article
Language:English
Published: Wiley 2010-11-01
Series:Kaohsiung Journal of Medical Sciences
Subjects:
BSCL2 gene
congenital generalized lipodystrophy
hepatitis
nephromegaly
Online Access:http://www.sciencedirect.com/science/article/pii/S1607551X10700942

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http://www.sciencedirect.com/science/article/pii/S1607551X10700942

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