SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report

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 synd...

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Detalles Bibliográficos
Autores principales: Lu, Ya-Ting, Wang, Lin, Hou, Le-Le, Zheng, Ping-Ping, Xu, Qian, Deng, Da-Tong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9439793/
https://www.ncbi.nlm.nih.gov/pubmed/36107570
http://dx.doi.org/10.1097/MD.0000000000030253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9439793/
https://www.ncbi.nlm.nih.gov/pubmed/36107570
http://dx.doi.org/10.1097/MD.0000000000030253

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