Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
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DOI: 10.1371/journal.pgen.1010129
Abstract: Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt disease is the most prevalent Mendelian eye disorder, although its underlying clinical heterogeneity,… read more here.
Keywords: rare common; disease; disease rare; abca4 disease ... See more keywords