Neurofibromatosis NF-1 LPU017

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterised by neurofibromas, café-au-lait spots, freckles, Lisch nodules, bone deformities, learning disabilities, macrocephaly, short stature and predisposition to developing tumors such as myeloid malignancies, gliomas and pheochromocytomas and occurs in 1 in 3,000-4,000 people. The disease is caused by mutations of the tumour suppressor gene NF1.