Article
Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.
International journal of molecular sciences - 17 Aug 2022
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
Abstract excerpt
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 congenital hypothyroidism-causative genes in a cohort of nine unrelated pediatric patients suspected of having a...
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