Open AccessDominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1
Author(s) -
M. Pilar Martin-Gutierrez,
Elena Schiff,
Genevieve Wright,
Naushin Waseem,
Omar A. Mahroo,
Michel Michaelides,
Anthony T. Moore,
Andrew R. Webster,
Gavin Arno
Publication year - 2022
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.63.9.14
Subject(s) - genetics , missense mutation , biology , dystrophy , allele , macular dystrophy , phenotype , gene