A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

Congenital hypothyroidism (CH) may be caused by biallelic variants in the TSHR gene. CH due to thyroid dysgenesis has also been linked to pathogenic variants of the nucleotide kinase 2, homeobox 5 (NKX2-5) gene, which can also cause sudden cardiac death from ventricular arrhythmia. In particular, th...

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Detalles Bibliográficos
Autores principales: Franceschi, Roberto, Maines, Evelina, Bellizzi, Maria, Rivieri, Francesca, Bacca, Andrea, Filippi, Alessandra, Valente, Enza Maria, Plumari, Massimo, Soffiati, Massimo, Vincenzi, Monica, Teofoli, Francesca, Camilot, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9983796/
https://www.ncbi.nlm.nih.gov/pubmed/36468928
http://dx.doi.org/10.20945/2359-3997000000546

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