Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy
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DOI: 10.1002/humu.23715
Abstract: The autosomal dominant progressive bifocal chorioretinal atrophy (PBCRA) disease locus has been mapped to chromosome 6q14–16.2 that overlaps the North Carolina macular dystrophy (NCMD) locus MCDR1. NCMD is a nonprogressive developmental macular dystrophy, in which… read more here.
Keywords: variants upstream; upstream prdm13; bifocal chorioretinal; chorioretinal atrophy ... See more keywords