Article
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.
Orphanet journal of rare diseases - 21 Feb 2017
Chow Yock-Ping, Abdul Murad Nor Azian, Mohd Rani Zamzureena, Khoo Jia-Shiun, Chong Pei-Sin, Wu Loo-Ling, Jamal Rahman
Abstract excerpt
BACKGROUND: Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AND RESULTS: Whole exome sequencing was performed on 2 sisters with PDS and their unaffected...
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