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The Neurofibromatoses. Part 1: NF1.

Authors: Christine, Lu-Emerson; Scott R, Plotkin;

The Neurofibromatoses. Part 1: NF1.

Abstract

The neurofibromatoses, including neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, comprise a group of genetically distinct disorders of the nervous system unified by the predisposition to nerve sheath tumors. NF1 is the most common neurogenetic disorder, with a birth incidence of 1 in 3000. NF1 is inherited in auto-somal dominant fashion with full penetrance and variable expressivity. The hallmark lesion of NF1 is the neurofibroma, a benign tumor derived from the nerve sheath and composed of a mixture of proliferating Schwann cells, fibroblasts, mast cells, and pericytes. Other findings include gliomas, learning disability, vasculopathy, and bony abnormalities. Café au lait macules are typically the initial clinical manifestation of NF1 and tend to increase in size and number throughout childhood and puberty. Current treatment of patients with NF1 remains primarily surgical. Genetic counseling is essential for adult patients because molecular diagnostic testing can minimize the risk of transmission to children.

Related Organizations
Keywords

Neurofibromatosis 1, Neurofibromatoses, Cafe-au-Lait Spots, Brain, Eye, Nervous System, Bone and Bones, Peripheral Nervous System, Humans, Genes, Tumor Suppressor, Skin

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Powered by OpenAIRE graph
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
42
Top 10%
Top 10%
Top 10%
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