PAX6 molecular analysis and genotype–phenotype correlations in families with aniridia from Australasia and Southeast Asia

PURPOSE: Aniridia is a congenital disorder caused by variants in the PAX6 gene. In this study, we assessed the involvement of PAX6 in patients with aniridia from Australasia and Southeast Asia. METHODS: Twenty-nine individuals with aniridia from 18 families originating from Australia, New Caledonia,...

Descripción completa

Detalles Bibliográficos
Autores principales: Souzeau, Emmanuelle, Rudkin, Adam K., Dubowsky, Andrew, Casson, Robert J., Muecke, James S., Mancel, Erica, Whiting, Mark, Mills, Richard A.D., Burdon, Kathryn P., Craig, Jamie E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873721/
https://www.ncbi.nlm.nih.gov/pubmed/29618921

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873721/
https://www.ncbi.nlm.nih.gov/pubmed/29618921

Ejemplares similares