Associated Papers
Co-existence of Congenital Hypothyroidism (CH) and TBG-Excess in a Boy Causing Simultaneous Elevation in Thyroid Stimulating Hormone (TSH) and Thyroxine (T4) Levels: First Report from India and Review of the Literature.
Gawandi S et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2026
Genetic Analyses in a Cohort of Pediatric Patients with Congenital Hypothyroidism Based on Congenital Hypothyroidism Consensus Guideline.
Kurnaz E et al.
Hormone Research in Paediatrics, 2026
Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.
Zhang HY et al.
Hormone Research in Paediatrics, 2024
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
32565793 (PubMed )
Supplement: 6808517.f1.zip › 6808517.f1 › supplement_table_1.xlsx › Supplement_Table_1
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
Bougacha-Elleuch N et al.
European Journal of Pediatrics, 2015
A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect.
Cangul H et al.
Endocrine Research, 2015
One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.
Cangül H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2014
A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect.
Baş VN et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.
Cangul H et al.
Clinical Endocrinology, 2013
Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.
Ozbek MN et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
Select a paper to view details