Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.

CONCLUSION: We describe two patients with classic clinical manifestations of CGL2 confirmed by genetic sequence analysis. A novel variant in BSCL2 gene was detected in one patient (c.713G>A/p.Gly238Asp). PMID: 28916377 [PubMed - as supplied by publisher]
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research