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Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism

The sodium-iodide symporter (NIS, SLC5A5) is expressed at the basolateral membrane of the thyroid follicular cell, and facilitates the thyroidal iodide uptake required for thyroid hormone biosynthesis. Biallelic loss-of-function mutations in NIS are a rare cause of dyshormonogenic congenital hypothy...

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Detalles Bibliográficos
Autores principales:	Durgia, Harsh, Nicholas, Adeline K., Schoenmakers, Erik, Dickens, Jennifer A., Halanaik, Dhanapathi, Sahoo, Jayaprakash, Kamalanathan, Sadishkumar, Schoenmakers, Nadia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Mary Ann Liebert, Inc., publishers 2022
Materias:	Brief Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8861941/ https://www.ncbi.nlm.nih.gov/pubmed/34806438 http://dx.doi.org/10.1089/thy.2021.0478

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