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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 hypopla...

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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 4 Sept 2026. Prepared record publication-24979395-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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