Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

BACKGROUND: Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia. Hearing impairment and EVA may occur in the absence of goitre or thyroid dyshormo...

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Detalles Bibliográficos
Autores principales: Landa, Priya, Differ, Ann-Marie, Rajput, Kaukab, Jenkins, Lucy, Bitner-Glindzicz, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765178/
https://www.ncbi.nlm.nih.gov/pubmed/23965030
http://dx.doi.org/10.1186/1471-2350-14-85

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