A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis.
Mariano MartínCarlos Pablo ModenuttiMauco Lucas Gil RosasVictoria PeyretRomina Celeste GeyselsCarlos Eduardo Bernal BarqueroGabriela SobreroLiliana MuñozMalvina SignorinoGraciela TestaMirta Beatriz MirasAna María Masini-RepisoNora Beatriz CalcaterraGabriela CouxNancy CarrascoMarcelo Adrián MartíJuan Pablo NicolaPublished in: The Journal of clinical endocrinology and metabolism (2021)
We report a novel NIS pathogenic variant associated with dyshormonogenic congenital hypothyroidism. Detailed molecular characterization of G561E NIS uncovered the significance of KLC2 in thyroid physiology.
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