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

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

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2021-05-01
Series:JAAD Case Reports
Subjects:
epidermolysis bullosa
genetic diseases/mechanisms
skin signs of systemic disease
vesicoureteric disorders
Online Access:http://www.sciencedirect.com/science/article/pii/S2352512621001818

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