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Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ

Paired box transcription factor 8 (PAX8) is essential for thyroid organogenesis and development. Heterozygous pathogenic variants of PAX8 typically cause congenital hypothyroidism (CH) due to thyroid hypoplasia. Additionally, pathogenic PAX8 variants have been identified in patients with gland in si...

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Detalles Bibliográficos
Autores principales:	Batjargal, Khishigjargal, Tajima, Toshihiro, Fujita-Jimbo, Eriko, Yamaguchi, Takeshi, Nakamura, Akie, Yamagata, Takanori
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9637420/ https://www.ncbi.nlm.nih.gov/pubmed/36405440 http://dx.doi.org/10.1297/cpe.2021-0065

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