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A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant

Congenital hypothyroidism (CH) due to dyshormonogenesis may occur due to mutations in any of the key genes involved in thyroid hormone biosynthesis (TG, TPO, DUOX2, DUOXA2, SLC5A5, IYD, SLC26A4 and SLC26A7). Mutations in the thyroglobulin gene (TG) are frequently associated with goiter, which may pr...

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Detalles Bibliográficos
Autores principales:	Stern, Eve, Schoenmakers, Nadia, Nicholas, Adeline K., Kassif, Eran, Hamiel, Orit Pinhas, Yeshayahu, Yonatan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176088/ https://www.ncbi.nlm.nih.gov/pubmed/33832185 http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0278

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