Phenotypic and Genetic Heterogeneity in Congenital Generalized Lipodystrophy

K. Agarwal, Anil; Simha, Vinaya; A Oral, Elif; Ann Moran, Stephanie; Görden, Phillip; O’Rahilly, Stephen; Zaidi, Zohra; Gürakan, Figen; Arslanian, Silva; Klar, Aharon; Ricker, Alyne; H. White, Neil; Bindl, L.; L. Herbst, Karen; A. Kennel, Kurt; B. Patel, Shailesh; Al‐Gazali, Lihadh; Garg, Abhimanyu

doi:10.1210/jc.2003-030855

Public

Phenotypic and Genetic Heterogeneity in Congenital Generalized Lipodystrophy

Published in The Journal of Clinical Endocrinology & Metabolism • Oct 1, 2003

Authors:

Anil K. Agarwal

Vinaya Simha

Elif A Oral

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...

Subject

Genetics

Pedigree chart

Lipodystrophy

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!