Abstract:Albinism is a phenotypically and genetically heterogeneous condition characterized by a variable degree of hypopigmentation and by ocular features leading to reduced visual acuity. Whereas numerous genotypic studies have been conducted throughout the world, very little is known about the genotypic spectrum of albinism in Africa and especially in Sub-Saharan Western Africa. Here we report the analysis of all 20 known albinism genes in a series a 23 patients originating from Mali. Four were diagnosed with OCA 1 … Show more
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