Concurrence of anorexia nervosa and Noonan syndrome.

Abstract excerpt

Noonan syndrome (NS) is a genetic disease inherited in an autosomal dominant mode; it presents significant genetic heterogeneity and varying penetrance. Mutations have been identified in several genes, and they account for 75% of all known cases. The majority of reported mutations are localized on PTPN11 gene, which encodes the non-receptor type protein tyrosine phosphatase SHP-2. Diagnosis, however, is mainly...

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