title: Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement.
authors.forename: A Tülin
authors.initials: AT
authors.lastname: Mansur
authors.forename: Nursel H
authors.initials: NH
authors.lastname: Elcioglu
authors.forename: Ikbal E
authors.initials: IE
authors.lastname: Aydingöz
authors.forename: A Deniz
authors.initials: AD
authors.lastname: Akkaya
authors.forename: Zehra Asiran
authors.initials: ZA
authors.lastname: Serdar
authors.forename: Corinna
authors.initials: C
authors.lastname: Herz
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D004935:Esophageal Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D005831:Genital Diseases, Female / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009092:Mucous Membrane / Q000473:pathology; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010787:Photosensitivity Disorders / Q000235:genetics; D016133:Polymerase Chain Reaction; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology; D012872:Skin Diseases, Vesiculobullous / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
chemical_list: C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins