Article
SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report.
Medicine - 2 Sept 2022
Lu Ya-Ting, Wang Lin, Hou Le-Le, Zheng Ping-Ping, Xu Qian, Deng Da-Tong
Abstract excerpt
RATIONALE: Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, inner ear malformations, goiter, and abnormal organification of iodide. It is caused by mutations in SLC26A4 gene, which encodes pendrin (a transporter of chloride, bicarbonate, and iodide). Pendred syndrome is a common cause of syndromic deafness, but the metabolic abnormalities it causes are often...
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