Condition: Retinal Cone Dystrophy 3B


rs104894116 in KCNV2 gene and Retinal Cone Dystrophy 3B PMID 16909397 2006 "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause ""cone dystrophy with supernormal rod electroretinogram"" in humans."

rs149648640 in KCNV2;PUM3 gene and Retinal Cone Dystrophy 3B PMID 18235024 2008 Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

PMID 21911584 2011 Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.

PMID 23115240 2012 Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram.

PMID 23885164 2013 Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.

PMID 21882291 2011 Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

rs104894115 in PUM3;KCNV2 gene and Retinal Cone Dystrophy 3B PMID 16909397 2006 "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause ""cone dystrophy with supernormal rod electroretinogram"" in humans."