Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus
Valentina Cipriani, Raquel Sofia Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeiņa, Inna Inashkina, Māreta Audere, Katrīna Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lāce, Andrew R. Webster, 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.
Scientific Reports · Aug 2, 2017Peer-reviewedGenomics