SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the NF1 phenotype
Résumé
Mutations of the gene, one of a family of Sprouty (Spry)/Spred proteins known to 'down-regulate' mitogen-activated protein kinase (MAPK) signalling, have been identified in patients with a mild neurofibromatosis type1 phenotype with pigmentary changes but no neurofibromas (Legius syndrome).To ascertain the frequency of mutations as a cause of this phenotype and to investigate whether other genes may be causal, a panel of unrelated mild NF1 patients were screened for mutations of the and the genes.
Origine : Fichiers produits par l'(les) auteur(s)
Loading...