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Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene

Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism. Genetic analysi...

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Detalles Bibliográficos
Autores principales:	Calcaterra, Valeria, Lamberti, Rossella, Viggiano, Claudia, Gatto, Sara, Spaccini, Luigina, Lista, Gianluca, Zuccotti, Gianvincenzo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8163152/ https://www.ncbi.nlm.nih.gov/pubmed/34063177 http://dx.doi.org/10.3390/pediatric13020029

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