High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.

Abstract excerpt

BACKGROUND: Noonan syndrome (NS, OMIM 163950) is a relatively common autosomal dominant disorder and has significant phenotypic overlap with Costello Syndrome and cardio-facio-cutaneous syndrome. Molecular diagnosis is useful for differential diagnosis. PTPN11 gene mutation is the most common mut...

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