Results 231 to 240 of about 25,083,649 (268)
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2004
Type 2 neurofibromatosis (NF2) is an autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene NF2 on chromosome 22. Around 1 in 33000 people are born with an NF2 mutation although more than one-third of the 60% of de novo cases are not conceived with the mutation but this develops later in embryogenesis (mosaics).
openaire +2 more sources
Type 2 neurofibromatosis (NF2) is an autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene NF2 on chromosome 22. Around 1 in 33000 people are born with an NF2 mutation although more than one-third of the 60% of de novo cases are not conceived with the mutation but this develops later in embryogenesis (mosaics).
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Annals of Otology, Rhinology & Laryngology, 1991
A case report of bilateral acoustic neurofibromatosis (NF-2) is presented with temporal bone histopathology. The distinct clinical and genetic features of NF-2 are reviewed in the context of recent data that show it to be a disorder distinct from classic von Recklinghausen's disease (NF-1).
P B, Flexon +4 more
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A case report of bilateral acoustic neurofibromatosis (NF-2) is presented with temporal bone histopathology. The distinct clinical and genetic features of NF-2 are reviewed in the context of recent data that show it to be a disorder distinct from classic von Recklinghausen's disease (NF-1).
P B, Flexon +4 more
openaire +2 more sources
[Neurofibromatosis 2 (bilateral acoustic neurofibromatosis)].
Schweizerische medizinische Wochenschrift, 1989We report a personal series of 28 patients with neurofibromatosis 2 (NF-2), emphasizing the differences from classical NF-1. The hallmark of NF-2 is bilateral acoustic neuromas with initial symptoms usually occurring in the second or third decade. The natural history may lead to bilateral deafness, but hearing loss may also be a complication of surgery.
C, Yalcinkaya +2 more
openaire +1 more source
Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2
Annals of Neurology, 2018T. Godel +9 more
semanticscholar +1 more source
Journal of the American Medical Association (JAMA), 1997
D. Gutmann +7 more
semanticscholar +1 more source
D. Gutmann +7 more
semanticscholar +1 more source

