Novel compound heterozygous missense variants (c.G955A and c.A1822C) of CACNA2D4 likely causing autosomal recessive retinitis pigmentosa in a Chinese patient
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DOI: 10.1007/s13205-021-02761-4
Abstract: Retinitis pigmentosa (RP) is a rare and heterogeneous group of inherited ocular diseases. However, the relationship between CACNA2D4 mutations and RP is not well understood. In this study, a Chinese autosomal recessive retinitis pigmentosa (arRP)… read more here.
Keywords: retinitis pigmentosa; cacna2d4; novel compound; compound heterozygous ... See more keywords