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,...

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Detalhes bibliográficos
Publicado no:Mol Vis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5873721/
https://ncbi.nlm.nih.gov/pubmed/29618921
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