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Article

CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Sept 2014

Green Glenn E, Huq Farhan S, Emery Sarah B, Mukherji Suresh K, Martin Donna M

Abstract excerpt

OBJECTIVE: To determine whether patients with semicircular canal dysplasia have mutations in CHD7. BACKGROUND: CHARGE syndrome is a nonrandom clustering of congenital anomalies, including ocular coloboma, heart defects, choanal atresia or stenosis, retarded growth and development, genital hypoplasia, and inner and outer ear anomalies including deafness. Semicircular canal dysplasia has been included as a major...

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Identifiers

PMID: 24979395
DOI: 10.1097/MAO.0000000000000260
PMCID: PMC4166654

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.

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CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction.Semantic proximity Read ↗

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