Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy
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DOI: 10.1080/13816810.2022.2025604
Abstract: ABSTRACT Background Autosomal-dominant cone-rod dystrophy 7 (CORD7) has been documented in association with RIM1 mutation (c.2459 G>A). We report a patient with retinal dystrophy who was heterozygous for RIM1 missense variant with a newly found… read more here.
Keywords: rim1; retinal dystrophy; rim1 mutation; mutation ... See more keywords