Congenital generalised lipodystrophy type 2
Congenital generalised lipodystrophy (CGL) also known as Berardinelli-Seip syndrome is an autosomal recessive disorder characterised by a nearly complete lack of adipose tissue, hypertriglyceridaemia, insulin resistance and early-onset diabetes.[1 2][1] Clinical diagnosis helps in the early
Authors
- Amaresh Roy
- Varunvenkat M Srinivasan
- Vykuntaraju K. Gowda (ORCID: https://orcid.org/0000-0001-7244-0492)
- Prahalad Kumar
- Viveka Santhosh Reddy Challa (ORCID: https://orcid.org/0000-0002-0996-3626)
Institutions
- Indira Gandhi Institute of Child Health (IN)
Publication Details
- Journal
- BMJ Case Reports
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1136/bcr-2024-264477
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.00