It can spawn tumors throughout the nervous system and bone deformities that riddle the whole body with pain. One of the most common rare diseases in the world, the genetic condition neurofibromatosis ...

In the Department of Genetics, doctors are using genetic and genomic testing to pinpoint the exact cause of a patient’s condition—even when symptoms mimic more than one disorder. This clarity is ...

Despite what was previously thought, new research has shown that genetic changes alone cannot explain why and where tumours grow in those with genetic condition neurofibromatosis type 1 (NF-1).

Panelists discuss how neurofibromatosis type 1 (NF1) is typically diagnosed in early childhood using National Institutes of Health (NIH) clinical criteria, with genetic testing supporting unclear ...

Patients with clinical features suggestive of either NS, NSML, CFC, NF1, Legius syndrome or Noonan-like syndrome; patients with a clinical diagnosis of any of these syndromes that previously tested ...

Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder arising from mutations in the NF1 gene that encodes the tumour suppressor protein neurofibromin. Research has increasingly refined our ...

Despite what was previously thought, new research has shown that genetic changes alone cannot explain why and where tumours grow in those with genetic condition neurofibromatosis type 1 (NF-1).