A novel mutation in BBS7 gene causes Bardet–Biedl syndrome in a Chinese family

PURPOSE: To describe the clinical features of and identify a novel mutation in Bardet–Biedl syndrome 7 gene (BBS7) in a Chinese family. METHODS: Nineteen individuals at risk for inheriting Bardet-Biedl syndrome (BBS) in a Chinese family participated in the study. Physical examination was performed a...

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Detalles Bibliográficos
Autores principales: Yang, Zhenglin, Yang, Yang, Zhao, Peiquan, Chen, Kechun, Chen, Bin, Lin, Ying, Guo, Fuqiang, Chen, Yigong, Liu, Xiaoqi, Lu, Fang, Shi, Yi, Zhang, Dingding, Liao, Shihuang, Xia, Qingyou
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2603185/
https://www.ncbi.nlm.nih.gov/pubmed/19093007

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