Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect

Congenital iodide transport defect is an uncommon autosomal recessive disorder caused by loss-of-function variants in the sodium iodide symporter (NIS)-coding SLC5A5 gene and leading to dyshormonogenic congenital hypothyroidism. Here, we conducted a targeted next-generation sequencing assessment of...

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Detalles Bibliográficos
Autores principales: Bernal Barquero, Carlos Eduardo, Geysels, Romina Celeste, Jacques, Virginie, Carro, Gerardo Hernán, Martín, Mariano, Peyret, Victoria, Abregú, María Celeste, Papendieck, Patricia, Masini-Repiso, Ana María, Savagner, Frédérique, Chiesa, Ana Elena, Citterio, Cintia E., Nicola, Juan Pablo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9409291/
https://www.ncbi.nlm.nih.gov/pubmed/36012511
http://dx.doi.org/10.3390/ijms23169251

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