Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

• Main Authors: Syed Ashraf Uddin (Author), Nicole Cesarato (Author), Aytaj Humbatova (Author), Axel Schmidt (Author), Fazal urRehman (Author), Muhammad Naeem (Author), Abdul Samad Tareen (Author), Sabrina Wolf (Author), Muhammad Anwar Panezai (Author), Holger Thiele (Author), Abdul Wali (Author), Regina Fölster-Holst (Author), Sulman Basit (Author), Muhammad Ayub (Author), Regina C. Betz (Author)
• Format: Book
• Published: Medical Journals Sweden, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Dystrophic epidermolysis bullosa is an inherited skin disorder characterized by fragile skin that is prone to blistering. We report here a consanguineous Pakistani family with two siblings, in whom a severe recessive dystrophic epidermolysis bullosa was suspected. Using whole-exome sequencing for on...