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Article

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

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

Choo Daniel I, Tawfik Kareem O, Martin Donna M, Raphael Yehoash

Abstract excerpt

The inner ear contains the sensory organs for hearing and balance. Both hearing and balance are commonly affected in individuals with CHARGE syndrome (CS), an autosomal dominant condition caused by heterozygous pathogenic variants in the CHD7 gene. Semicircular canal dysplasia or aplasia is the single most prevalent feature in individuals with CHARGE leading to deficient gross motor skills and ambulation....

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Identifiers

PMID: 29082607
DOI: 10.1002/ajmg.c.31587
PMCID: PMC5726934

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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