Pathophysiology of neurofibromatosis type 1
A Theos, BR Korf - Annals of internal medicine, 2006 - acpjournals.org
A Theos, BR Korf
Annals of internal medicine, 2006•acpjournals.orgNeurofibromatoses are inherited disorders, designated as neurofibromatosis type 1 (NF1),
neurofibromatosis type 2, and schwannomatosis, that tend to result in benign tumors of the
nerve sheath. Much has been learned about the pathophysiology of NF1, the most common
of these disorders, since the NF1 gene (which produces the NF1 phenotype) was identified
in 1990. This review discusses the NF1 phenotype, the current understanding of basic
mechanisms, and the status of translation of this knowledge into clinical application.
neurofibromatosis type 2, and schwannomatosis, that tend to result in benign tumors of the
nerve sheath. Much has been learned about the pathophysiology of NF1, the most common
of these disorders, since the NF1 gene (which produces the NF1 phenotype) was identified
in 1990. This review discusses the NF1 phenotype, the current understanding of basic
mechanisms, and the status of translation of this knowledge into clinical application.
Neurofibromatoses are inherited disorders, designated as neurofibromatosis type 1 (NF1), neurofibromatosis type 2, and schwannomatosis, that tend to result in benign tumors of the nerve sheath. Much has been learned about the pathophysiology of NF1, the most common of these disorders, since the NF1 gene (which produces the NF1 phenotype) was identified in 1990. This review discusses the NF1 phenotype, the current understanding of basic mechanisms, and the status of translation of this knowledge into clinical application.
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