Neurofibromatosis (NF) 1 and 2 are genetically and phenotyp-ically distinct genetic disorders characterized by the development of benign and malignant tumors. Advances in molecular genetics have resulted in the identification of the NF1 and NF2 genes and their encoded proteins, neurofibromin, and merlin/schwannomin. Identification of these causative genes has led to an improved understanding of the molecular pathogenesis of NF1 and NF2, and has recently resulted in the development of targeted biologically based therapies for tumors in NF1. In this chapter, the epidemiology, clinical features, molecular pathogenesis, animal models, and therapeutic strategies for NF1 and NF2 will be discussed.

Original languageEnglish
Title of host publicationPrinciples of Molecular Medicine
PublisherHumana Press
Number of pages5
ISBN (Print)9781588292025
StatePublished - Dec 1 2006


  • Café-au-lait macule
  • NF1
  • NF2
  • juvenile cataract
  • menin-gioma
  • merlin
  • neurofibroma
  • neurofibromin


Dive into the research topics of 'Neurofibromatosis 1 and 2'. Together they form a unique fingerprint.

Cite this