title: Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis.
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
authors.forename: R K
authors.initials: RK
authors.lastname: Jobling
authors.affiliation: Section of Dermatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
authors.forename: I
authors.initials: I
authors.lastname: Lara-Corrales
authors.affiliation: Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, AL, U.S.A.
authors.forename: M-C
authors.initials: MC
authors.lastname: Hsiao
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Shugar
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Hedges
authors.affiliation: Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, AL, U.S.A.
authors.forename: L
authors.initials: L
authors.lastname: Messiaen
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Kannu
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000293:Adolescent; D019080:Cafe-au-Lait Spots / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009030:Mosaicism; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C504812:SPRED1 protein, human