Article
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
Proceedings of the National Academy of Sciences of the United States of America - 25 Nov 2008
Pera Alejandra, Dossena Silvia, Rodighiero Simona, Gandía Marta, Bottà Guido, Meyer Giuliano, Moreno Felipe, Nofziger Charity, Hernández-Chico Concepción, Paulmichl Markus
Abstract excerpt
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 separate type of sensorineural hearing loss showing normal thyroid function. Both Pendred syndrome and ns-EVA seem to be...
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