A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by polydactyly, obesity, rod-cone dystrophy, and mental retardation. Twenty-one genes have been identified as causing BBS. This study collected a BBS pedigree from two patients and performed whole-exome sequencing on o...

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Detalles Bibliográficos
Autores principales: Zhang, Yue, Xu, Manhong, Zhang, Minglian, Yang, Guoxing, Li, Xiaorong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536422/
https://www.ncbi.nlm.nih.gov/pubmed/34692830
http://dx.doi.org/10.1155/2021/4514967

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536422/
https://www.ncbi.nlm.nih.gov/pubmed/34692830
http://dx.doi.org/10.1155/2021/4514967

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