A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy
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DOI: 10.2147/dmso.s207293
Abstract: Purpose This study aims to report the clinical features of an infant with CGL in a Chinese Zhuang ethnic family, whose family members were discovered to carry new pathogenic mutations in the BSCL2. Patients and… read more here.
Keywords: mutation; compound heterozygous; heterozygous mutation; family ... See more keywords