title: [Germinal loss-of-function mutations in the spred1 gene cause conditions similar to neurofibromatosis type 1].
authors.affiliation: Service de dermatologie, hôpital Saint-Eloi, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. o-dereure@chu-montpellier.fr
authors.forename: O
authors.initials: O
authors.lastname: Dereure
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000483:Alleles; D018095:Germ-Line Mutation; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D018631:ras Proteins / Q000378:metabolism
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C504812:SPRED1 protein, human; D018631:ras Proteins