Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

PloS one - 1 Jan 2013

Hauke Jan, Schild Andrea, Neugebauer Antje, Lappa Alexandra, Fricke Julia, Fauser Sascha, Rösler Stefanie, Pannes Andrea, Zarrinnam Dirk, Altmüller Janine, Motameny Susanne, Nürnberg Gudrun, Nürnberg Peter, Hahnen Eric, Beck Bodo B

Abstract excerpt

Cone-rod dystrophies (CORDs) represent a heterogeneous group of monogenic diseases leading to early impairment of vision. The majority of CORD entities show autosomal modes of inheritance and X-linked traits are comparably rare. So far, three X-chromosomal entities were reported (CORDX1, -X2 and -X3). In this study, we analysed a large family of German origin with solely affected males over three generations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium Channels, L-Type
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genetic Diseases, X-Linked

Share to Genetic Linkage

Share to Retinitis Pigmentosa

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 24124559
DOI: 10.1371/journal.pone.0076414
PMCID: PMC3790679

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.PMID 24124559Read ↗

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

Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.Semantic proximity Read ↗

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.Semantic proximity Read ↗

Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.Semantic proximity Read ↗

The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.Semantic proximity Read ↗

Novel recessive cone-rod dystrophy caused by POC1B mutation.Semantic proximity Read ↗

Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.Semantic proximity Read ↗

Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy.Semantic proximity Read ↗

CRX variants in cone-rod dystrophy and mutation overview.Semantic proximity Read ↗

ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.Semantic proximity Read ↗

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.