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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Detalhes bibliográficos
Main Authors: 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
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research Article
Acesso em linha: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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