Neurofibromatosis Type 1 (von Recklinghausen Disease, NF1)

Pathophysiology

Neurofibromatosis type 1 (NF1), or von Recklinghausen disease, is an autosomal dominant loss-of-function mutation in the NF1 gene at 17q11.2, which encodes neurofibromin — a GTPase-activating protein...