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

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

American journal of medical genetics. Part A - 1 Mar 2010

Zentner Gabriel E, Layman Wanda S, Martin Donna M, Scacheri Peter C

Abstract excerpt

CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities (including deafness)] is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE...

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 Disease Models, Animal

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Helicases

Share to Ear, Inner

Share to Heart Defects, Congenital

Share to Mice, Mutant Strains

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 20186815
DOI: 10.1002/ajmg.a.33323
PMCID: PMC2918278

Genes

CHD7

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.PMID 20186815Read ↗

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Semantic proximity Read ↗

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

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

Mutation update on the CHD7 gene involved in CHARGE syndrome.Semantic proximity Read ↗

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.Semantic proximity Read ↗

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

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.Semantic proximity Read ↗

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.Semantic proximity Read ↗

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.Semantic proximity Read ↗

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

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.Semantic proximity Read ↗

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.Semantic proximity Read ↗

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