A Novel PAX6 Frameshift Mutation Identified in a Large Chinese Family with Congenital Aniridia

Congenital aniridia is a rare autosomal dominant congenital ocular disorder. Genetic studies suggest that heterozygous mutations in the developmental regulator PAX6 gene or the related regulatory regions leading to haploinsufficiency are the main cause of congenital aniridia. In this study, the clin...

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Detalles Bibliográficos
Autores principales: Wang, Chenghu, Yang, Weihua, Li, Xiumiao, Zhou, Chenchen, Liu, Jinghua, Jin, Ling, Jiang, Qin, Wang, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10052173/
https://www.ncbi.nlm.nih.gov/pubmed/36983625
http://dx.doi.org/10.3390/jpm13030442

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10052173/
https://www.ncbi.nlm.nih.gov/pubmed/36983625
http://dx.doi.org/10.3390/jpm13030442

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