title: Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome.
authors.forename: B C F
authors.initials: BC
authors.lastname: Martignago
authors.forename: J E
authors.initials: JE
authors.lastname: Lai-Cheong
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.forename: T F
authors.initials: TF
authors.lastname: Cestari
mesh_terms: D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000235:genetics*; D013577:Syndrome
chemical_list: C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins