Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family

PURPOSE: To report on a clinical and genetic investigation of a large, multigenerational South African family of mixed ancestry with autosomal dominant congenital cataracts, coloboma, and nystagmus. METHODS: Ophthalmic examination was performed in 27 individuals from the same admixed South African f...

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Detalles Bibliográficos
Autores principales: Goolam, Saadiah, Carstens, Nadia, Ross, Mark, Bentley, David, Lopes, Margarida, Peden, John, Kingsbury, Zoya, Tsogka, Eleni, Barlow, Robyn, Carmichael, Trevor R., Ramsay, Michèle, Williams, Susan 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/PMC5993530/
https://www.ncbi.nlm.nih.gov/pubmed/29930474

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