Neurofibromatosis type 1 (NF1) is a common genetic disorder which predisposes affected individuals to a variety of clinical features including tumors of th... G,R,Skuse,... - 《Human Molecular Genetics》 被引量: 75发表: 1997年 Detection of a neurofibromatosis type I (NF1) homologous sequence...
deletions.NF1microdeletion patients also have an increased risk of malignant peripheral nerve sheath tumours (MPNSTs); their lifetime MPNST risk is 16–26%, rather higher than that of NF1 patients with intragenicNF1mutations (8–13%).NF1microdeletion patients, therefore, represent a high-risk ...
impacting 1 in every 2500 people worldwide, with around 100,000 cases in the US. The disorder is the most common form of neurofibromatosis and individuals diagnosed with NF1 have an 8-to-15-year mean reduction in their life expectancy compared to the general population. Additionally,...