Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism

BACKGROUND: Congenital hypothyroidism is often secondary to thyroid dysgenesis, including thyroid agenesis, hypoplasia, ectopic thyroid tissue or cysts. Loss of function mutations in TSHR, PAX8, NKX2.1, NKX2.5 and FOXE1 genes are responsible for some forms of inherited congenital hypothyroidism, wit...

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Autores principales: Vincenzi, Monica, Camilot, Marta, Ferrarini, Eleonora, Teofoli, Francesca, Venturi, Giacomo, Gaudino, Rossella, Cavarzere, Paolo, De Marco, Giuseppina, Agretti, Patrizia, Dimida, Antonio, Tonacchera, Massimo, Boner, Attilio, Antoniazzi, Franco
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2014
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4142740/
https://ncbi.nlm.nih.gov/pubmed/25146893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1472-6823-14-69
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