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A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome

✍ Scribed by Borum Sagong; Jun Ho Seok; Tae-Jun Kwon; Un-Kyung Kim; Sang-Heun Lee; Kyu-Yup Lee


Book ID
119241302
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
802 KB
Volume
508
Category
Article
ISSN
0378-1119

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Pendred syndrome (PDS; OMIM #274600) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with inner ear malformations and goiter, although the thyroid symptoms are variable [Reardon et al., 1999]. PDS is estimated to account for 5% of childhood deafness, rising t