The phenotypic variability of HK1-associated retinal dystrophy
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DOI: 10.1038/s41598-017-07629-3
Abstract: Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both… read more here.
Keywords: phenotypic variability; dystrophy; variant; hk1 associated ... See more keywords