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Autor:
V. I. Vives, O. Karamanoglu Arseven, V. V. Gomez, R. C. Ramirez, Peter Kopp, G. Medeiros-Neto, C. J. Ceballos, O. Gonzalez Trevino
Publikováno v:
European Journal of Endocrinology. :585-593
BACKGROUND: The autosomal recessive Pendred's syndrome is defined by congenital sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations in the Pendred's syndrome (PDS) gene that encodes pendrin, a chloride/iodide