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

Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.

Clinical dysmorphology - 1 Jul 2016

Surányi Andrea, Maróti Zoltán, Tálosi Gyula, Kalmár Tibor, Kaiser László, Bereczki Csaba, Pál Attila, Keresztúri Attila

Abstract excerpt

No abstract is available from the source.

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 DNA Helicases
Share to Fatal Outcome
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polydactyly

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 26901670
DOI: 10.1097/MCD.0000000000000120

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.PMID 26901670Read ↗

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.Semantic proximity Read ↗

Gene symbol: CHD7. Disease: CHARGE syndrome.Semantic proximity Read ↗

CHARGE syndrome and CHD7 gene mutation.Semantic proximity Read ↗

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndromeSemantic proximity Read ↗

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

CHARGE syndrome: a review.Semantic proximity Read ↗

[CHARGE syndrome: a new mutation in the CHD7 gene].Semantic proximity Read ↗

A novel CHD7 variant in a chinese family with CHARGE syndrome.Semantic proximity Read ↗

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

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

CHARGE: an association or a syndrome?Semantic proximity Read ↗

[Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].Semantic proximity Read ↗

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