A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism
MOLECULAR SYNDROMOLOGY（2024）
关键词
Metabolic disease,Neurodevelopmental disorders,Neutral lipid storage disease with myopathy,Novel mutation,Triacylglycerol,Whole-exome sequencing
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