Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report
Abstract Congenital generalized lipodystrophy type 1 (CGL1) is a very rare autosomal recessive genetic mutation with generalized lipoatrophy and metabolic complications. We report CGL1 in two Saudi female siblings with lipoatrophy, diabetes mellitus, hypertriglyceridemia, steatohepatitis, and acanth...
Main Authors: | Abdulrrahman Hummadi, Ahmed Ali Nahari, Ali Jaber Alhagawy, Ibrahim Zakri, Raed Abutaleb, Saeed Yafei |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2022-04-01
|
Series: | Clinical Case Reports |
Subjects: | |
Online Access: | https://doi.org/10.1002/ccr3.5720 |
Similar Items
-
A serendipitous discovery: an adult case of congenital generalized lipodystrophy
by: Abdul Rehman Zia Zaidi, et al.
Published: (2020-03-01) -
Novel Homozygous Mutation in the AGPAT2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome
by: Ahya Zaridoust, et al.
Published: (2018-04-01) -
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease
by: Giovanni Ceccarini, et al.
Published: (2020-02-01) -
Seipin: from human disease to molecular mechanism
by: Bethany R. Cartwright, et al.
Published: (2012-06-01) -
Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event
by: Francisca Beires, et al.
Published: (2022-12-01)