Article
The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients.
Endocrine - 1 Oct 2006
Cho Mi Ae, Jeong Su Jin, Eom Sang-Mi, Park Hyun-Young, Park Hyun-Yung, Lee Young Joo, Park Se Eun, Park So Young, Rhee Yumie, Kang Eun Seok, Kang Eun Soek, Ahn Chul Woo, Cha Bong Soo, Lee Eun Jig, Kim Kyung Rae, Lee Hyun Chul, Lim Sung-Kil
Abstract excerpt
Inherited as an autosomal recessive trait, Pendred syndrome is a disease that shows congenital sensorineural hearing loss and goiter, with a positive finding in the perchlorate discharge test. Pendred syndrome results from various mutations in the PDS/SLC26A4 gene that cause production of an abnormal pendrin protein. More than 90 mutations in the PDS/SLC26A4 gene have been reported throughout the world. A recent...
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