Article

Duplication events downstream of <i>IRX1</i> cause North Carolina macular dystrophy at the MCDR3 locus

2017-02-12

Abstract excerpt

Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a failure of macular development. The disorder has been assigned by linkage to two loci, MCDR1 on chromosome 6q16 and MCDR3 on chromosome 5p15-p13. Recently, noncoding variants upstream of PRDM13 and a large duplication including IRX1 have been identified. However, the underlying disease-causing mechanism remains uncertain. Throu...

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Literature Corpus work: dddd58fc-ffee-5557-84b4-746558824378
DOI: 10.1101/107573

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