Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline
mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis …

Abstract Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes
affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein …

Summary Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder,
predisposing development of benign and malignant tumours. Given the oncogenic potential …

Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging
between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with …

Disclaimer This practice resource is designed primarily as an educational resource for
medical geneticists and other clinicians to help them provide quality medical services …

Abstract Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major
impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a …

The neurofibromatoses are a group of three heterogeneous disorders that include
neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 …

Although a mutation in the NF1 gene is the only factor required to initiate the
neurocutaneous-skeletal neurofibromatosis 1 (NF1) syndrome, the pathoetiology of the …

Abstract Neurofibromatosis type 1 (NF1), Noonan syndrome, and related syndromes,
grouped as RASopathies, result from dysregulation of the RAS-MAPK pathway and …

Glomus tumors are rare mesenchymal neoplasms with a phenotype akin to the modified
smooth muscle cells of the glomus body. Most are benign, but rare examples show …