<i>NF1</i> mutations and clinical spectrum in patients with spinal neurofibromas

Abstract excerpt

] Patients with multiple spinal tumours but very few or no other clinical symptoms of NF1, including three multigenerational families, In one of these multigenerational families, a truncating mutation in exon 46 of the NF1 gene was found. However, no systematic study of the clinical spectrum of patients with spinal tumours and of the NF1 mutations associated with it has been carried out.

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