Associated Papers
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
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
Szczałuba K et al.
American Journal of Medical Genetics. Part A, 2016
TPO gene mutations associated with thyroid carcinoma: Case report and literature review.
Zhu H et al.
Cancer Biomarkers : Section a of Disease Markers, 2015
Mutations of the thyroid peroxidase gene in Chinese siblings with congenital goitrous hypothyroidism.
Ma SG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
Avbelj M et al.
European Journal of Endocrinology, 2007
A novel hypothyroid dwarfism due to the missense mutation Arg479Cys of the thyroid peroxidase gene in the mouse.
Takabayashi S et al.
Molecular Endocrinology (baltimore, Md.), 2006
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