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Difference between revisions of "Neurofibromatosis"
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→Neurofibromatosis type 2: +gene
(→Neurofibromatosis type 2: +triva) |
(→Neurofibromatosis type 2: +gene) |
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==Neurofibromatosis type 2== | ==Neurofibromatosis type 2== | ||
*Caused by mutations in the ''NF2 gene'';<ref name=omim101000>{{OMIM|101000}}</ref> this gene is also known as ''merlin''.<ref name=omim607379>{{OMIM|607379}}</ref> | |||
===Diagnosis=== | |||
Features (need 1/3 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1178283-overview http://emedicine.medscape.com/article/1178283-overview]. Accessed on: 3 May 2010.</ref> | Features (need 1/3 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1178283-overview http://emedicine.medscape.com/article/1178283-overview]. Accessed on: 3 May 2010.</ref> | ||
#Bilateral CNVIII masses on imaging. | #Bilateral CNVIII masses on imaging. | ||
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*[[meningioma|'''M'''eningiomas]]. | *[[meningioma|'''M'''eningiomas]]. | ||
*[[ependymoma|'''E'''pendymomas]]. | *[[ependymoma|'''E'''pendymomas]]. | ||
==See also== | ==See also== | ||