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Paperback Neurofibromatosis Type 1(NF1) Book

ISBN: 1661565794

ISBN13: 9781661565794

Neurofibromatosis Type 1(NF1)

Neurofibromatosis type 1 is a multifaceted autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Approximately all people with neurofibromatosis type 1 develop pigmentary lesions and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas,...

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