Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct (EVA) to Mondini malformation, and deficient iodide organification in the thyroid gland. Nonsyndromic EVA (ns-EVA) is a sepa...

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Detalhes bibliográficos
Main Authors: Pera, Alejandra, Dossena, Silvia, Rodighiero, Simona, Gandía, Marta, Bottà, Guido, Meyer, Giuliano, Moreno, Felipe, Nofziger, Charity, Hernández-Chico, Concepción, Paulmichl, Markus
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2008
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2584577/
https://ncbi.nlm.nih.gov/pubmed/19017801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0805831105
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