GenomicsScientific ReportsPeer-reviewed
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus
Valentina Cipriani, Raquel Sofia Silva, Gavin Arno…·Anthony T. Moore
The paper identifies two duplications at the MCDR3 locus associated with North Carolina macular dystrophy, refining the disease-causing region and showing expression of IRX1 and ADAMTS16 in fetal retina.
29 citations