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Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis

CONTEXT: Screening of the known candidate genes involved in thyroid organogenesis has revealed mutations in a small subset of patients with congenital hypothyroidism due to thyroid dysgenesis (TD). OBJECTIVE: We studied a girl with TD who had mutations in two transcription factors involved in thyroi...

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Detalhes bibliográficos
Main Authors: Hermanns, Pia, Grasberger, Helmut, Refetoff, Samuel, Pohlenz, Joachim
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3100746/
https://ncbi.nlm.nih.gov/pubmed/21450989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-2341
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