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: Chen R, Yuan X, Wang J, Zhang Y Tags: Gene Source Type: research
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