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Enlarged vestibular aqueduct syndrome
- ... PubMed Smith RJH, Iwasa Y, Schaefer AM. Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct. 1998 Sep 28 [updated 2020 Jun 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle ... Citation on PubMed
- ... in the SLC26A4 gene in people with Pendred syndrome. This condition is characterized by enlargement of the thyroid gland (called a goiter), hearing loss, and other abnormalities of the inner ear, including an enlarged vestibular aqueduct.Some of the SLC26A4 gene mutations change single ...