Two Novel SLC5A5 Variants (Q263L and G350D) Causing Congenital Hypothyroidism
{{output}}
SLC5A5 encodes sodium-iodide symporter (NIS), which transports inorganic iodide into thyroid cells. Biallelic loss-of-function variants in SLC5A5 cause thyroid dyshormonogenesis due to iodide transport defect (ITD). We report a Japanese sibling with ITD carryi... ...
