Case Report: A homozygous selenocysteine insertion sequence-binding protein 2 (SECISBP2) gene mutation in a pediatric patient

Case Report: A homozygous selenocysteine insertion sequence-binding protein 2 (SECISBP2) gene mutation in a pediatric patient

Selenocysteine insertion sequence-binding protein 2 (SECISBP2) is crucial for the biosynthesis of selenoproteins, including iodothyronine deiodinases, which play a vital role in thyroid hormone metabolism. Mutations in SECISBP2 can disrupt thyroid function, leading to various clinical manifestations...

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Bibliographic Details
Main Authors: Lina Almohammadi, Lama Alsayel, Mohammad Aljumaa, Raghad Alhuthil, Afaf Alsagheir
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Pediatrics
Subjects:
SECISBP2 gene
thyroid function
dysmorphic features
short stature
Saudi Arabia
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1637116/full
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