Article
Spinal neurofibromatosis associated with classical neurofibromatosis type 1: genetic characterisation of an atypical case.
BMJ case reports - 14 Feb 2013
Carman Kursat bora, Yakut Ayten, Anlar Banu, Ayter Sukriye
Abstract excerpt
Spinal tumours are observed in about 40% of neurofibromatosis type 1 (NF1) patients and occur within two subgroups: (1) NF1 patients carrying classical diagnostic criteria and only one or few spinal tumours and (2) patients with few NF1 stigmata but multiple bilateral spinal tumours, an entity called spinal neurofibromatosis. We report a young patient whose classical NF1 stigmata and numerous spinal neurofibromas...
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