The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis

To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD. Individual phenotypes were carefully analyzed in 86 children with thyroid dysgenesis (TD) using thyroid function tests, scintigraphy, ultrasound and echocardiography. DNA was extracted...

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Veröffentlicht in:	Archives of Endocrinology and Metabolism 2015-12, Vol.59 (6), p.562-567
Hauptverfasser:	Cerqueira, Taise Lima de Oliveira, Ramos, Yanne, Strappa, Giorgia, Martin, Daniel San, Jesus, Mariana, Gonzaga, Jailciele, Ferreira, Paulo, Costa, Anabel, Fernandes, Vladimir, Amorim, Tatiana, Ladeia, Ana Marice, Ramos, Helton
Format:	Artikel
Sprache:	eng
Schlagworte:	congenital heart disease congenital hypothyroidism Female Genetic Association Studies Homeobox Protein Nkx-2.5 Homeodomain Proteins - genetics Humans Infant, Newborn Male NKX2.5 Pedigree Polymorphism, Genetic Thyroid dysgenesis Thyroid Dysgenesis - genetics Thyroid Function Tests Thyroid Gland - abnormalities Transcription Factors - genetics
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