Pendred syndrome, DFNB4, and PDS/SLC26A4
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Colleen Campbell; Robert A. Cucci; Sai Prasad; Glenn E. Green; J. Bradley Edeal;
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Article
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2001
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John Wiley and Sons
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English
⚖ 254 KB
Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. The hearing loss is associated with temporal bone abnormalities, ranging from isolated enlargement of the vestibular aqueduct (dilated vestibular aqueduct,