Two Cases of Thyroid Dysgenesis Caused by Different Novel <i>PAX8</i> Mutations in the DNA-Binding Region: <i>In Vitro</i> Studies Reveal Different Pathogenic Mechanisms

Abstract excerpt

BACKGROUND: Mutations in PAX8, a transcription factor gene, cause thyroid dysgenesis (TD). The extreme variability of the thyroid phenotype makes it difficult to identify individuals harboring PAX8 gene mutations. Here we describe two patients with TD and report two novel PAX8 gene mutations (S54R and R133Q). We performed in vitro studies to functionally characterize these mutations. METHODS: Using PAX8...

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