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Kresak JL, Walsh M. Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. J Pediatr Genet. 2016;5(2):98-104doi: 10.1055/s-0036-1579766.
Kresak, J. L., & Walsh, M. (2016). Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. Journal of pediatric genetics, 5(2), 98-104. https://doi.org/10.1055/s-0036-1579766
Kresak, Jesse Lee, and Walsh, Meggen. "Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis." Journal of pediatric genetics vol. 5,2 (2016): 98-104. doi: https://doi.org/10.1055/s-0036-1579766
Kresak JL, Walsh M. Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. J Pediatr Genet. 2016 Jun;5(2):98-104. doi: 10.1055/s-0036-1579766. Epub 2016 Mar 09. PMID: 27617150; PMCID: PMC4918700.
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J Pediatr Genet. 2016 Jun;5(2):98-104. doi: 10.1055/s-0036-1579766. Epub 2016 Mar 09.

Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis.

Journal of pediatric genetics

Jesse Lee Kresak, Meggen Walsh

Affiliations

  1. Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, Florida, United States.

PMID: 27617150 PMCID: PMC4918700 DOI: 10.1055/s-0036-1579766

Abstract

The neurofibromatoses are a heterogeneous group of hereditary cancer syndromes that lead to tumors of the central and peripheral nervous systems, as well as other organ systems. By far the most common form is neurofibromatosis 1 (96%), followed by neurofibromatosis 2 (3%), and a more recently recognized, lesser known form, schwannomatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations are discussed in this review article.

Keywords: NF1; NF2; neurofibromatosis; schwannomatosis; von Recklinghausen disease

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