Article
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
The Journal of clinical endocrinology and metabolism - 1 Apr 2006
Dentice Monica, Cordeddu Viviana, Rosica Annamaria, Ferrara Alfonso Massimiliano, Santarpia Libero, Salvatore Domenico, Chiovato Luca, Perri Anna, Moschini Lidia, Fazzini Cristina, Olivieri Antonella, Costa Pietro, Stoppioni Vera, Baserga Mariangiola, De Felice Mario, Sorcini Mariella, Fenzi Gianfranco, Di Lauro Roberto, Tartaglia Marco, Macchia Paolo Emidio
Abstract excerpt
CONTEXT: Congenital hypothyroidism (CH) is a common endocrine disorder with an incidence of 1:3000-4000 at birth. In 80-85% of cases, CH is caused by defects in thyroid organogenesis, resulting in absent, ectopically located, and/or severely reduced gland [thyroid dysgenesis (TD)]. Mutations in genes controlling thyroid development have demonstrated that in a few cases, TD is a Mendelian trait. However,...
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