Article
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.
The Journal of clinical endocrinology and metabolism - 1 Sept 1999
Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O'Rahilly S, Taylor S I, Patel S B, Bowcock A M
Abstract excerpt
Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have marked insulin resistance, hypertriglyceridemia and acanthosis nigricans, and develop diabetes mellitus during teenage years. The genetic defect for CGL is unknown. A semi-automated genome-wide...
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