Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

Abstract excerpt

BACKGROUND: Data on dermatological manifestations of Noonan syndrome (NS) remain heterogeneous and are based on limited dermatological expertise. OBJECTIVES: To describe the dermatological manifestations of NS, compare them with the literature findings, and test for dermatological phenotype-genotype correlations with or without the presence of PTPN11 mutations. METHODS: We performed a large 4-year, prospective,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Autophagy in Disease and Therapy
• Share to Protein Tyrosine Phosphatases
• Share to Viral-associated cancers and disorders