Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

Abstract

Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a failure of macular development. The disorder has been linked to two loci, MCDR1 (chromosome 6q16) and MCDR3 (chromosome 5p15-p13). Recently, non-coding variants upstream of PRDM13 (MCDR1) and a duplication including IRX1 (MCDR3) have been identified. However, the… (More)
DOI: 10.1038/s41598-017-06387-6

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