Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism

Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism

Background and ObjectivesDefects in the human sodium/iodide symporter (SLC5A5) gene have been reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC5A5 mutations in Chinese patients with CH and to evaluate the function of the mutation.MethodsTwo hundred and seve...

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Autores principales: Cao-Xu Zhang, Jun-Xiu Zhang, Liu Yang, Chang-Run Zhang, Feng Cheng, Rui-Jia Zhang, Ya Fang, Zheng Wang, Feng-Yao Wu, Pei-Zhang Li, Jun Liang, Rui Li, Huai-Dong Song
Formato: Artículo
Lenguaje:English
Publicado: Frontiers Media S.A. 2021-03-01
Colección:Frontiers in Endocrinology
Materias:
iodine transport
mutation
SLC5A5
next-generation sequencing
congenital hypothyroidism
Acceso en línea:https://www.frontiersin.org/articles/10.3389/fendo.2021.620117/full

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