Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation

Meifen Wang,Zhikuan Cun,Junchao Peng,Rui Chen,Jiwei Li

European Journal of Clinical Nutrition（2022）

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摘要

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease with a prevalence of less than one in ten million. To our knowledge, ~500 cases, including 95% of BSCL2, have been reported in the literatures, but no types of CGL with NOTCH2 gene mutation has been described.

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关键词

congenital generalized lipodystrophy,heterozygous missense notch2 mutation

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