N Ratner, SJ Miller - Nature Reviews Cancer, 2015 - nature.com
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 …
Importance Neurofibromatosis type 1 (NF1) is a complex genetic disorder that is associated with not only neurofibromas, but also an increased susceptibility to other neoplasms …
DT Miller, D Freedenberg, E Schorry, NJ Ullrich… - …, 2019 - publications.aap.org
Neuroibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000. The …
C Bergqvist, A Servy, L Valeyrie-Allanore… - Orphanet Journal of …, 2020 - Springer
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 …
RE Ferner, SM Huson, N Thomas, C Moss… - Journal of medical …, 2007 - jmg.bmj.com
Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression …
Aortic aneurysm is common, accounting for 1–2% of all deaths in industrialized countries. Early theories of the causes of human aneurysm mostly focused on inherited or acquired …
K Jett, JM Friedman - Genetics in Medicine, 2010 - Elsevier
Neurofibromatosis 1 is an autosomal dominant disorder characterized by multiple café-au- lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch …
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of∼ 1 per 2500 to 3000 individuals. Caused by a germ-line–inactivating mutation …
DC Guo, CL Papke, V Tran-Fadulu… - The American Journal of …, 2009 - cell.com
The vascular smooth muscle cell (SMC)-specific isoform of α-actin (ACTA2) is a major component of the contractile apparatus in SMCs located throughout the arterial system …