Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

BACKGROUND: Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity). The relationship between mutations in SLC26A4 and Mondini deformity without enlarged vestib...

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Detalles Bibliográficos
Autores principales: Huang, Shasha, Han, Dongyi, Yuan, Yongyi, Wang, Guojian, Kang, Dongyang, Zhang, Xin, Yan, Xiaofei, Meng, Xiaoxiao, Dong, Min, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3204245/
https://www.ncbi.nlm.nih.gov/pubmed/21961810
http://dx.doi.org/10.1186/1479-5876-9-167

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