Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing

BACKGROUND: Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts. METHODS: Detailed family history and clinical data were collected, and op...

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Detalles Bibliográficos
Autores principales: Li, Shan, Zhang, Jianfei, Cao, Yixuan, You, Yi, Zhao, Xiuli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6915918/
https://www.ncbi.nlm.nih.gov/pubmed/31842807
http://dx.doi.org/10.1186/s12881-019-0933-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6915918/
https://www.ncbi.nlm.nih.gov/pubmed/31842807
http://dx.doi.org/10.1186/s12881-019-0933-5

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