Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy

• Carter Ellis, BS,
• Chelsea Eason, MSCR, MD,
• Alan Snyder, BS, MSCR,
• Mark Siegel, MD,
• Gurpur Shashidhar Pai, MD,
• Erin Ryan, MS, CGC, LGC,
• Ellen G. Pfendner, PhD,
• Lara Wine Lee, MD, PhD

Affiliations

Carter Ellis, BS

College of Medicine, Medical University of South Carolina, Charleston, South Carolina; Correspondence to: Carter Ellis, BS, College of Medicine, Medical University of South Carolina, 135 Rutledge Ave MSC 578, Charleston, SC 29425.

Chelsea Eason, MSCR, MD

Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina

Alan Snyder, BS, MSCR

College of Medicine, Medical University of South Carolina, Charleston, South Carolina

Mark Siegel, MD

Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina; Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina

Gurpur Shashidhar Pai, MD

Department of Genetics, Medical University of South Carolina, Charleston, South Carolina

Erin Ryan, MS, CGC, LGC

Clinical Genomics Program, GeneDx Inc, Gaithersburg, Maryland

Ellen G. Pfendner, PhD

Epidermolysis Bullosa Diagnostics Program, GeneDx Inc, Gaithersburg, Maryland

Lara Wine Lee, MD, PhD

Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina; Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina