Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter.
genetic conditions
References
Bizhanova A, Kopp P. Genetics and phenomics of Pendred syndrome. Mol CellEndocrinol. 2010 Jun 30;322(1-2):83-90. doi: 10.1016/j.mce.2010.03.006.
Ito T, Choi BY, King KA, Zalewski CK, Muskett J, Chattaraj P, Shawker T,Reynolds JC, Butman JA, Brewer CC, Wangemann P, Alper SL, Griffith AJ. SLC26A4genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem. 2011;28(3):545-52. doi: 10.1159/000335119.
Kopp P. Mutations in the Pendred Syndrome (PDS/SLC26A) gene: an increasinglycomplex phenotypic spectrum from goiter to thyroid hypoplasia. J Clin Endocrinol Metab. 2014 Jan;99(1):67-9. doi: 10.1210/jc.2013-4319.
Smith RJH, Iwasa Y, Schaefer AM. Pendred Syndrome/Nonsyndromic EnlargedVestibular Aqueduct. 1998 Sep 28 [updated 2020 Jun 18]. In: Adam MP, Ardinger HH,Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1467/
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