Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene
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DOI: 10.1007/s00417-018-04233-7
Abstract: PurposePosterior column ataxia and retinitis pigmentosa (PCARP) is a rare form of syndromic RP associated with mutations in the FLVCR1 gene. Recent evidence has suggested a spectrum in the phenotype depending on the genotype.MethodsSix individuals… read more here.
Keywords: flvcr1 gene; ophthalmology; retinitis pigmentosa; autosomal recessive ... See more keywords