Article
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family.
Molecular vision - 1 Jan 2018
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
Abstract excerpt
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 family. DNA was sampled from either peripheral blood or buccal swabs in all 27 individuals, and whole genome...
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