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...

Descripción completa

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

Internet

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

Ejemplares similares