| 概要 |
Neurofibromatosis 2 (NF2) is a rare autosomal dominant multiple neoplasia syndrome that is caused by inactivating mutations of the NF2 tumour suppressor gene. The course of the disease is usually progressive, though variable, causing significant morbidity associated with deafness, blindness, brain stem compression, gait instability, and paralysis. Onset typically occurs while a patient is in their 20s. Vestibular schwannomas, usually bilateral, occur in more than 90% of adult patients and intracranial meningiomas occur in about 50% of patients.
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| 著者 |
Baser ME, Kuramoto L, Woods R, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato R, Carroll J, Lazaro C, Joncourt F, Parry DM, Rouleau GA, Evans DG |
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