Associated Papers
Airway compression in a neonate with thyroid dyshormonogenesis due to SLC26A7 defect.
Hirano Y et al.
European Journal of Endocrinology, 2025
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S10
Defects in protein folding in congenital hypothyroidism.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2020
NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.
Kimura S et al.
Cancer Science, 2019
30387229 (PubMed )
Supplement: CAS-110-784-s012.xlsx › Sup3_Mutation
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Cangul H et al.
Jci Insight, 2018
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