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

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 a...

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Bibliographic Details
Main Authors: Hermanns, Pia, Grasberger, Helmut, Cohen, Ronald, Freiberg, Clemens, Dörr, Helmuth-Günther, Refetoff, Samuel, Pohlenz, Joachim
Format: Artigo
Language:Inglês
Published: Mary Ann Liebert, Inc. 2013
Subjects:
Original StudiesThyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3704082/
https://ncbi.nlm.nih.gov/pubmed/23308388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2012.0141
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