title: Identification of five novel SPRED1 germline mutations in Legius syndrome.
authors.forename: S
authors.initials: S
authors.lastname: Laycock-van Spyk
authors.forename: H P
authors.initials: HP
authors.lastname: Jim
authors.forename: L
authors.initials: L
authors.lastname: Thomas
authors.forename: G
authors.initials: G
authors.lastname: Spurlock
authors.forename: L
authors.initials: L
authors.lastname: Fares
authors.forename: S
authors.initials: S
authors.lastname: Palmer-Smith
authors.forename: U
authors.initials: U
authors.lastname: Kini
authors.forename: A
authors.initials: A
authors.lastname: Saggar
authors.forename: M
authors.initials: M
authors.lastname: Patton
authors.forename: V
authors.initials: V
authors.lastname: Mautner
authors.forename: D T
authors.initials: DT
authors.lastname: Pilz
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000293:Adolescent; D000328:Adult; D019080:Cafe-au-Lait Spots / Q000235:genetics*; D002648:Child; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C504812:SPRED1 protein, human