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

by 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
Published 2021-05-01