A homozygous frameshift variant in the gene is compatible with life and results in severe recessive epidermolysis bullosa simplex.
作者信息
Tryon Rebecca K, Tolar Jakub, Preusser Sarah M, Riddle Megan J, Keene Douglas R, Bower Matthew, Thyagarajan Bharat, Ebens Christen L
机构信息
Department of Genetics, University of Minnesota, Minneapolis, Minnesota.
Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, Minnesota.
出版信息
JAAD Case Rep. 2019 Jun 26;5(7):576-579. doi: 10.1016/j.jdcr.2019.03.025. eCollection 2019 Jul.
Abstract
摘要
Zotero 插件