Neurofibromatosis 1

From Biology-Online Dictionary
Jump to: navigation, search

neurofibromatosis 1

A congenital autosomal dominant disorder characterised by developmental changes in the nervous system, muscles, bones, and skin especially in those derived from the embryonic neural crest. There are multiple cutaneous tumours and tumours of the peripheral and central nervous system. The disease has been linked to mutations of the nf1 gene on chromosome 17.