Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort

BackgroundThe molecular etiology and the genotype–phenotype correlation of congenital hypothyroidism (CH) remain unclear.MethodsWe performed genetic analysis in 42 newborns with CH using whole-exome sequencing. Patients were divided into a single-gene group and a multi-gene group according to the nu...

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Bibliographic Details
Main Authors: Wei Long, Fang Guo, Ruen Yao, Ying Wang, Huaiyan Wang, Bin Yu, Peng Xue
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Endocrinology
Subjects:
hypothyroidism
whole-exome sequencing
biallelic variant
oligogenic variant
characteristic
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.705773/full

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https://www.frontiersin.org/articles/10.3389/fendo.2021.705773/full

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