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Article

The phenotypic variability of HK1-associated retinal dystrophy

26 Jul 2017

Abstract excerpt

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 underlying genetic and environmental factors. In the present study, we identified four unrelated IRD families with the HK1 p.E851K...

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PMID: 28765615
DOI: 10.1038/s41598-017-07629-3

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