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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
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