We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
- Authors
Spurlock, G; Bennett, E; Chuzhanova, N; Thomas, N; Jim, H-Ping; Side, L; Davies, S; Haan, E; Kerr, B; Huson, S M; Upadhyaya, M
- Abstract
Mutations of the SPRED1 gene, one of a family of Sprouty (Spry)/Spred proteins known to "downregulate" mitogen activated protein kinase (MAPK) signalling, have been identified in patients with a mild neurofibromatosis type 1 (NF1) phenotype with pigmentary changes but no neurofibromas (Legius syndrome).To ascertain the frequency of SPRED1 mutations as a cause of this phenotype and to investigate whether other SPRED/SPRY genes may be causal, a panel of unrelated mild NF1 patients were screened for mutations of the SPRED1-3 and the SPRY1-4 genes.
- Publication
Journal of medical genetics, 2009, Vol 46, Issue 7, p431
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2008.065474