A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus

Abstract

PURPOSE The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy. METHODS A common clinical examination and an ophthalmic evaluation were performed on the proband, one carrier, and one unaffected member. Mutation… (More)

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