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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Detalhes bibliográficos
Publicado no:Pediatr Rep
Main Authors: Calcaterra, Valeria, Lamberti, Rossella, Viggiano, Claudia, Gatto, Sara, Spaccini, Luigina, Lista, Gianluca, Zuccotti, Gianvincenzo
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8163152/
https://ncbi.nlm.nih.gov/pubmed/34063177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/pediatric13020029
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