Neurofibromatosis type 1 (NF1) – Pathogenesis, clinical features, and diagnosis (2020) Bruce R Korf

Description

This document reviews the pathogenesis, clinical features, and diagnosis of Neurofibromatosis type 1 (NF1), previously known as von Recklinghausen disease. It covers the epidemiology, hallmarks (multiple café-au-lait macules and neurofibromas), and the underlying genetic cause: pathogenic variants in the NF1 gene located at chromosome 17q11.2, which disrupts the function of the neurofibromin protein.