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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Main Authors: Hermanns, Pia, Grasberger, Helmut, Cohen, Ronald, Freiberg, Clemens, Dörr, Helmuth-Günther, Refetoff, Samuel, Pohlenz, Joachim
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2013
Assuntos:
Original StudiesThyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Acesso em linha: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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