Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient.

Abstract

Background \nRasopathies are a group of genetic malformative syndromes including neurofibromatosis 1, Noonan, LEOPARD, Costello, cardio-facio-cutaneous, Legius, and capillary malformation-arteriovenous malformation syndromes.