Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas.
Stevenson
David
D
Viskochil
David
D
D048868:Adaptor Proteins, Signal Transducing; D019080:Cafe-au-Lait Spots / Q000235:genetics*; D016514:Genes, Neurofibromatosis 1; D056726:Genetic Association Studies; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome
D048868:Adaptor Proteins, Signal Transducing; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C504812:SPRED1 protein, human