SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report
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DOI: 10.1097/md.0000000000030253
Abstract: 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… read more here.
Keywords: hypokalemia; case; pendred syndrome; syndrome hypokalemia ... See more keywords