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Article

A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.

BMC medical genetics - 15 Apr 2011

Manes Gaël, Hebrard Maxime, Bocquet Béatrice, Meunier Isabelle, Coustes-Chazalette Delphine, Sénéchal Audrey, Bolland-Augé Anne, Zelenika Diana, Hamel Christian P

Abstract excerpt

BACKGROUND: Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (ad) CRD. METHODS: Family members underwent detailed ophthalmological examination. Linkage analysis using...

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Source

Open in PubMed Open full text

Identifiers

PMID: 21496248
DOI: 10.1186/1471-2350-12-54
PMCID: PMC3102607

Genes

BBS5
CERKL
KLHL23
NEUROD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.PMID 21496248Read ↗

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Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.Semantic proximity Read ↗

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F geneSemantic proximity Read ↗

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