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CHD7 Mutational Analysis and Clinical Considerations for Auditory Rehabilitation in Deaf Patients with CHARGE Syndrome
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 p...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172230/ https://www.ncbi.nlm.nih.gov/pubmed/21931733 http://dx.doi.org/10.1371/journal.pone.0024511 |
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