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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Main Authors: Pera, Alejandra, Dossena, Silvia, Rodighiero, Simona, Gandía, Marta, Bottà, Guido, Meyer, Giuliano, Moreno, Felipe, Nofziger, Charity, Hernández-Chico, Concepción, Paulmichl, Markus
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2008
Teme:
Biological Sciences
Online dostop: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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