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

• DOI: 10.1016/j.jdcr.2021.03.016
• Publication Date: 2021-03-21T00:45:26Z
• Authors: Carter Ellis; Chelsea Eason; Alan Snyder; Mark Siegel; Gurpur Shashidhar...; Erin Ryan; Ellen G. Pfendner; Lara Wine Lee
• Keywords: 0301 basic medicine; 03 medical and health sciences; 0302 clinical medicine; vesicoureteric disorders; RL1-803; genetic diseases/mechanisms; Case Report; epidermolysis bullosa; skin signs of systemic disease; Dermatology