title: A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination.
authors.forename: Y
authors.initials: Y
authors.lastname: Gache
authors.forename: C
authors.initials: C
authors.lastname: Romero-Graillet
authors.forename: A
authors.initials: A
authors.lastname: Spadafora
authors.forename: C
authors.initials: C
authors.lastname: Lépinard
authors.forename: P
authors.initials: P
authors.lastname: Descamps
authors.forename: C B
authors.initials: CB
authors.lastname: Bardon
authors.forename: J P
authors.initials: JP
authors.lastname: Ortonne
authors.forename: G
authors.initials: G
authors.lastname: Meneguzzi
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D016109:Epidermolysis Bullosa, Junctional / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D039503:Integrin alpha6; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011708:Pylorus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal
chemical_list: D015703:Antigens, CD; D039503:Integrin alpha6