title: ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement.
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Mingyang
authors.initials: M
authors.lastname: Lee
authors.forename: Quan
authors.initials: Q
authors.lastname: Chen
authors.forename: Huijun
authors.initials: H
authors.lastname: Wang
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.forename: Zhimiao
authors.initials: Z
authors.lastname: Lin
authors.forename: Yong
authors.initials: Y
authors.lastname: Yang
mesh_terms: D004252:DNA Mutational Analysis; D016109:Epidermolysis Bullosa, Junctional / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D039663:Integrin beta4 / Q000235:genetics*; D008297:Male; D052801:Male Urogenital Diseases / Q000175:diagnosis / Q000235:genetics*; D046529:Microscopy, Electron, Transmission; D010641:Phenotype; D055815:Young Adult
chemical_list: C059834:ITGB4 protein, human; D039663:Integrin beta4