Associated Papers
Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene.
Alsalloum A et al.
Stem Cell Research, 2024
Novel and Previously Known Mutations of the KCNV2 Gene Cause Various Variants of the Clinical Course of Cone Dystrophy with Supernormal Rod Response in Children.
Alsalloum A et al.
Journal of Clinical Medicine, 2024
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M et al.
American Journal of Ophthalmology, 2021
33309813 (PubMed )
Supplement: mmc1.pdf
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Guimaraes TAC et al.
Ophthalmic Genetics, 2020
32441199 (PubMed )
Supplement: IOPG_A_1766087_SM2520.pdf
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
Wissinger B et al.
Investigative Ophthalmology & Visual Science, 2008
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