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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2023
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| Materias: | |
| 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 |