Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome.

Abstract excerpt

Noonan syndrome (NS; MIM 163950) is an autosomal dominant syndrome which is clinically diagnosed by the distinct facial features, short stature, cardiac anomalies and developmental delay. About 50% of cases are associated with gain of function mutations in PTPN11 gene which leads to activation of the RAS/mitogen-activated protein kinase signaling pathway. This is known to have a role in tumorigenesis. Despite...

Topics

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

• Share to Adolescent
• Share to Astrocytoma
• Share to PTPN11 gene