Associated Papers
An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.
Bernal Barquero CE et al.
Thyroid : Official Journal of the American Thyroid Association, 2022
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_S1
Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.
Zhang CX et al.
Frontiers in Endocrinology, 2021
First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.
Stoupa A et al.
European Journal of Endocrinology, 2020
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