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Novel Missense Variants in PAX8 and NKX2-1 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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Detalles Bibliográficos
Autores principales:	Li, Menglin, Li, Zhuo, Chen, Miaomiao, Hu, Zhiqing, Zhou, Miaojin, Wu, Lingqian, Zhang, Chunhua, Liang, Desheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9821711/ https://www.ncbi.nlm.nih.gov/pubmed/36614229 http://dx.doi.org/10.3390/ijms24010786

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