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Article

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2017

van Ravenswaaij-Arts Conny, Martin Donna M

Abstract excerpt

CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogenic variants in the gene CHD7. In this special issue of the American Journal of Medical Genetics part C, authors of eleven manuscripts describe specific organ system features of CHARGE syndrome, with a focus on recent developments in diagnosis, etiologies, and treatments. Since 2004, when...

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Share to Congenital Ear and Nasal Anomalies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29171162
DOI: 10.1002/ajmg.c.31592
PMCID: PMC6591023

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.PMID 29171162Read ↗

CHARGE syndrome: a review.Semantic proximity Read ↗

Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.Semantic proximity Read ↗

CHARGE syndrome.Semantic proximity Read ↗

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

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

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

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

[CHARGE syndrome in a neonate].Semantic proximity Read ↗

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.Semantic proximity Read ↗

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndromeSemantic 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 ↗

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