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A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy

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 METHODS: In this study, we report clinical and molecular investigations of CGL disease i...

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Detalles Bibliográficos
Autores principales:	Qin, Yuan-yuan, Zhang, Xuan, Xiang, Li-qun, Shan, Qing-wen, Li, Shou-dong, Yan, Jie, Lin, Fa-quan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2019
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6901035/ https://www.ncbi.nlm.nih.gov/pubmed/31824185 http://dx.doi.org/10.2147/DMSO.S207293

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