Article
High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis.
Journal of endocrinological investigation - 1 Jun 2018
Nettore I C, Desiderio S, De Nisco E, Cacace V, Albano L, Improda N, Ungaro P, Salerno M, Colao A, Macchia P E
Abstract excerpt
BACKGROUND: Congenital hypothyroidism is a frequent disease occurring with an incidence of about 1/1500 newborns/year. In about 75% of the cases, CH is caused by alterations in thyroid morphogenesis, defined "thyroid dysgenesis" (TD). TD is generally a sporadic disease but in about 5% of the cases a genetic origin has been demonstrated. Previous studies indicate that Dnajc17 as a candidate modifier gene for...
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