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TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review

An activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. Here we present a case of neonatal onset congenital...

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Detalles Bibliográficos
Autores principales: Kayaş, Leman, Çamtosun, Emine, Akıncı, Ayşehan, Bircan, Rıfat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900074/
https://www.ncbi.nlm.nih.gov/pubmed/33443352
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0229