De novo variant in GUCY2D gene causing atypical cone-rod dystrophy in a consanguineous family and literature review.
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DOI: 10.18240/ijo.2025.07.08
Abstract: AIM To analyze the pathogenicity and clinical features of patients in a consanguineous cone-rod dystrophy (CRD) family due to heterozygous variants in the GUCY2D gene. METHODS Whole exome sequencing was used to screen for pathogenic… read more here.
Keywords: family; gucy2d gene; rod dystrophy; variant gucy2d ... See more keywords