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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Dettagli Bibliografici
Autori principali: Pera, Alejandra, Dossena, Silvia, Rodighiero, Simona, Gandía, Marta, Bottà, Guido, Meyer, Giuliano, Moreno, Felipe, Nofziger, Charity, Hernández-Chico, Concepción, Paulmichl, Markus
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2008
Soggetti:
Biological Sciences
Accesso online: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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