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

New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.

Ophthalmic genetics - 1 Jun 2008

Holak Heinrich M, Kohlhase Jurgen, Holak Sophie A, Holak Nikolai H

Abstract excerpt

PURPOSE: To report new findings in the CHARGE syndrome with phenotypic anomalies associated with the R2319C mutation in the CHD7 gene. METHODS: Fundoscopic photography, ultrasonography, fluorescein angiography, optical coherence tomography (OCT). Mutational analysis of the CHD7 gene in lymphocyte DNA. RESULTS: Large pale optic discs with a fibrous elevation and colobomata and arterio-venous anastomoses with...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Coloboma
Share to DNA Helicases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Optic Disk

Share to Syndrome

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 18484313
DOI: 10.1080/13816810801918391

Genes

CHD7

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

New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.PMID 18484313Read ↗

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.Semantic proximity Read ↗

Ophthalmic features of CHARGE syndrome with CHD7 mutations.Semantic proximity Read ↗

CHARGE syndrome without colobomas: Ophthalmic findings.Semantic proximity Read ↗

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.Semantic proximity Read ↗

[Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome].Semantic proximity Read ↗

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.Semantic proximity Read ↗

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.Semantic proximity Read ↗

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.Semantic proximity Read ↗

CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.Semantic proximity Read ↗

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.Semantic proximity Read ↗

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report.Semantic proximity Read ↗

CHARGE syndrome: an update.Semantic proximity Read ↗

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