SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

Abstract

Objective:Mutations of the SPRED1 gene, one of a family of Sprouty (Spry)/Spred proteins known to “downregulate” mitogen activated protein kinase (MAPK) signalling, have been identified in patients with a mild...