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
Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.
Zhang HY et al.
Hormone Research in Paediatrics, 2024
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
Mild TPO deficiency characterized by progressive goiter and normal serum TSH level.
Zhang J et al.
Endocrine, 2020
Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.
Narumi S et al.
Endocrine Journal, 2017
Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian-Chinese with thyroid dyshormonogenesis.
Lee CC et al.
Bmj Open, 2015
Novel genetic variants in the TPO gene cause congenital hypothyroidism.
Ma SG et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2015
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