Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.
作者信息
Ellis Carter, Eason Chelsea, Snyder Alan, Siegel Mark, Pai Gurpur Shashidhar, Ryan Erin, Pfendner Ellen G, Lee Lara Wine
机构信息
College of Medicine, Medical University of South Carolina, Charleston, South Carolina.
Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina.
出版信息
JAAD Case Rep. 2021 Mar 20;11:63-68. doi: 10.1016/j.jdcr.2021.03.016. eCollection 2021 May.
Abstract
摘要
Zotero 插件