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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Thyroid hormone metabolism defect due to compound heterozygous SECISBP2 mutations: first reported case in Korea

Jina Yang1, Jung Min Ahn2, Hwal Rim Jeong1

  • 1Department of Pediatrics, School of Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, Republic of Korea.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|November 28, 2025
PubMed
Abstract

Keywords:
SECISBP2SBP2 defectT3 deficiencyTHMDselenoprotein

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