ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges

Affiliations

Girolamo Mattioli: Pediatric Surgery Unit, IRCCS Gaslini, DINOGMI Department, University of Genoa, Genoa, Italy
Andrea Diociaiuti: Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome
Sabrina Rossi: Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
Giovanna Zambruno: Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
Marcello Carlucci: Pediatric Surgery Unit, IRCCS Gaslini, Genoa, Italy
Elisa Pisaneschi: Laboratory of Medical Genetics, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
May El Hachem: Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome

Abstract

Abstract is missing (Short communication)