Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement

Affiliations

• ¹ Department of Dermatology, Venereology and Oncodermatology, UP Clinical Centre, University of Pécs Medical School, Pécs, Hungary.
• ² Department of Pathology, Moritz Kaposi General Hospital, Kaposvár, Hungary.
• ³ Department of Pathology, UP Clinical Centre, University of Pécs Medical School, Pécs, Hungary.
• ⁴ Department of Medical Genetics, University of Szeged, Szeged, Hungary.
• ⁵ Department of Dermatology, Venereology and Dermato-oncology, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
• ⁶ Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Genetics, Genomics & Cancer Biology PhD Program, College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
• ⁷ Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
• ⁸ Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address: Jouni.Uitto@Jefferson.edu.