Associated Papers
Molecular and clinical characteristics of pediatric patients with primary congenital hypothyroidism: novel genetic variants and the genotype-phenotype association.
Zhang CC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.
Huang X et al.
Biomedical Reports, 2025
Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients.
Liu R et al.
Journal of Clinical Medicine, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.
Sun F et al.
Clinical Genetics, 2021
Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.
Huang M et al.
Frontiers in Endocrinology, 2021
DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.
Sorapipatcharoen K et al.
Endocrine Connections, 2020
Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.
Yu B et al.
Frontiers in Genetics, 2018
Disorders of H2O2 generation.
Muzza M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.
Fu C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
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