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

Abstract 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 parti...

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Hlavní autoři:	Roberto Franceschi, Evelina Maines, Maria Bellizzi, Francesca Rivieri, Andrea Bacca, Alessandra Filippi, Enza Maria Valente, Massimo Plumari, Massimo Soffiati, Monica Vincenzi, Francesca Teofoli, Marta Camilot
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Sociedade Brasileira de Endocrinologia e Metabologia 2023-01-01
Edice:	Archives of Endocrinology and Metabolism
On-line přístup:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972023000100143&tlng=en
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