Novel clinical presentation and PAX6 mutation in families with congenital aniridia

PURPOSE: To explore the clinical phenotype and genetic defects of families with congenital aniridia. METHODS: Four Chinese families with aniridia were enrolled in this study. The detailed ocular presentations of the patients were recorded. Whole exome sequencing (BGI MGIEasy V4 chip) was used to det...

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Detalles Bibliográficos
Autores principales: Guo, Ruru, Zhang, Xiaotian, Liu, Aihua, Ji, Jian, Liu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792480/
https://www.ncbi.nlm.nih.gov/pubmed/36582291
http://dx.doi.org/10.3389/fmed.2022.1042588

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792480/
https://www.ncbi.nlm.nih.gov/pubmed/36582291
http://dx.doi.org/10.3389/fmed.2022.1042588

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