Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract

Congenital hereditary cataract is genetically heterogeneous and the leading cause of visual impairment in children. Identification of hereditary causes is critical to genetic counselling and family planning. Here, we examined a four-generation Chinese pedigree with congenital dominant cataract and i...

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Detalles Bibliográficos
Autores principales: Jin, Aixia, Zhao, Qingqing, Liu, Shuting, Jin, Zi-bing, Li, Shuyan, Xiang, Mengqing, Zeng, Mingbing, Jin, Kangxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9068895/
https://www.ncbi.nlm.nih.gov/pubmed/35531093
http://dx.doi.org/10.3389/fcell.2022.794837

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9068895/
https://www.ncbi.nlm.nih.gov/pubmed/35531093
http://dx.doi.org/10.3389/fcell.2022.794837

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