Associated Papers
Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.
Tsai CC et al.
The Kaohsiung Journal of Medical Sciences, 2024
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.
Li L et al.
Endocrine, 2023
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
Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis.
Chen X et al.
International Journal of Endocrinology, 2018
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
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
Fu C et al.
Bmj Open, 2016
Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene.
Satoh M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
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