Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism

BACKGROUND: Congenital iodide transport defect (ITD) is an uncommon cause of dyshormonogenic congenital hypothyroidism characterized by the absence of active iodide accumulation in the thyroid gland. ITD is an autosomal recessive disorder caused by loss-of-function variants in the sodium/iodide symp...

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Detalles Bibliográficos
Autores principales: Geysels, Romina Celeste, Bernal Barquero, Carlos Eduardo, Martín, Mariano, Peyret, Victoria, Nocent, Martina, Sobrero, Gabriela, Muñoz, Liliana, Signorino, Malvina, Testa, Graciela, Castro, Ricardo Belisario, Masini-Repiso, Ana María, Miras, Mirta Beatriz, Nicola, Juan Pablo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9114739/
https://www.ncbi.nlm.nih.gov/pubmed/35600585
http://dx.doi.org/10.3389/fendo.2022.868891

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