Associated Papers
Functional Domain Mapping of TPO: Insights from Six Variants in Sudanese Kindreds with Congenital Hypothyroidism.
Islam MS et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.
Naqvi SF et al.
The Yale Journal of Biology and Medicine, 2023
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_S2
Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability.
Khan A et al.
Human Genome Variation, 2020
Select a paper to view details