Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

AK, Agarwal; V, Simha; EA, Oral; SA, Moran; P, Gorden; S, O'Rahilly; Z, Zaidi; F, Gurakan; SA, Arslanian; A, Klar; A, Ricker; NH, White; L, Bindl; K, Herbst; K, Kennel; SB, Patel; L, Al-Gazali; A, Garg

doi:10.1210/jc.2003-030855

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Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

Shared by NobleBlocks on Oct 1, 2003 • 12:00 AM UTC

Authors:

Agarwal AK

Simha V

Oral EA

Abstract

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Recently, mutations in 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) genes were re...

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