MFSD8 gene mutations; evidence for phenotypic heterogeneity
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DOI: 10.1080/13816810.2019.1592200
Abstract: ABSTRACT Background: Cone–rod dystrophies are a group of genetically and phenotypically heterogeneous inherited degenerative retinal diseases primarily affecting macular and cone system function. MFSD8 loss-of-function variants are mainly related to the variant late-infantile neuronal ceroid… read more here.
Keywords: cone; cone rod; dystrophy; mfsd8 gene ... See more keywords