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Article

CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.

PloS one - 1 Jan 2011

Song Mee Hyun, Cho Hyun-Ju, Lee Hee Keun, Kwon Tae Jun, Lee Won-Sang, Oh Sanghee, Bok Jinwoong, Choi Jae Young, Kim Un-Kyung

Abstract excerpt

BACKGROUND: Otologic manifestations are one of the most consistent findings of CHARGE syndrome found in more than 90%. Since genetic analysis of the CHD7 gene has rarely been performed in previous reports dealing with ear abnormalities, the genotypic spectrum of CHD7 mutations was analyzed in deaf patients with CHARGE syndrome, and the clinical considerations concerning auditory rehabilitation were investigated....

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Source

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Identifiers

PMID: 21931733
DOI: 10.1371/journal.pone.0024511
PMCID: PMC3172230

Genes

CHD7

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