Novel Missense Variants in <i>PAX8</i> and <i>NKX2-1</i> Cause Congenital Hypothyroidism

Novel Missense Variants in <i>PAX8</i> and <i>NKX2-1</i> Cause Congenital Hypothyroidism

Primary congenital hypothyroidism (CH) is a common neonatal endocrine disorder characterized by elevated concentrations of thyroid stimulating hormone (TSH) and low concentrations of free thyroxine (FT4). PAX8 and NKX2-1 are important transcription factors involved in thyroid development. In this st...

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Bibliographic Details
Main Authors:	Menglin Li, Zhuo Li, Miaomiao Chen, Zhiqing Hu, Miaojin Zhou, Lingqian Wu, Chunhua Zhang, Desheng Liang
Format:	Article
Language:	English
Published:	MDPI AG 2023-01-01
Series:	International Journal of Molecular Sciences
Subjects:	congenital hypothyroidism <i>PAX8</i> <i>NKX2-1</i> whole exome sequencing (WES) novel variants functional study
Online Access:	https://www.mdpi.com/1422-0067/24/1/786

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