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

Ophthalmic features of CHARGE syndrome with CHD7 mutations.

American journal of medical genetics. Part A - 1 Mar 2012

Nishina Sachiko, Kosaki Rika, Yagihashi Tatsuhiko, Azuma Noriyuki, Okamoto Nobuhiko, Hatsukawa Yoshikazu, Kurosawa Kenji, Yamane Takahiro, Mizuno Seiji, Tsuzuki Kinichi, Kosaki Kenjiro

Abstract excerpt

Coloboma and various ocular abnormalities have been described in CHARGE syndrome, although the severity of visual impairment varies from case to case. We conducted a multicenter study to clarify the ophthalmic features of patients with molecularly confirmed CHARGE syndrome. Thirty-eight eyes in 19 patients with CHARGE syndrome and confirmed CHD7 mutations treated at four centers were retrospectively studied....

Read the complete abstract on PubMed

Topics

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

Share to CHARGE Syndrome
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Coloboma

Share to DNA-Binding Proteins

Share to DNA Helicases

Share to Infant

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 22302456
DOI: 10.1002/ajmg.a.34400

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

Ophthalmic features of CHARGE syndrome with CHD7 mutations.PMID 22302456Read ↗

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

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

Eyes on CHARGE syndrome: Roles of CHD7 in ocular developmentSemantic proximity Read ↗

Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.Semantic proximity Read ↗

Ocular features of CHARGE syndrome.Semantic proximity Read ↗

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

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

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

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

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

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