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Updated: May 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Two Novel SLC5A5 Variants (Q263L and G350D) Causing Congenital Hypothyroidism

Kiyomi Abe1,2, Mikiko Koizumi3, Takahiko Kogai4

  • 1Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Thyroid : Official Journal of the American Thyroid Association
|February 3, 2025
PubMed

Keywords:
NISSLC5A5congenital hypothyroidismiodide transport defectsodium-iodide symporterthyroid dyshormonogenesis

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