A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex

Rebecca K Tryon; Jakub Tolar; Sarah M Preusser; Megan J Riddle; Douglas R Keene; Matthew Bower; Bharat Thyagarajan; Christen L Ebens

doi:10.1016/j.jdcr.2019.03.025

A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex

JAAD Case Rep. 2019 Jun 26;5(7):576-579. doi: 10.1016/j.jdcr.2019.03.025. eCollection 2019 Jul.

Authors

Rebecca K Tryon^{1

2}, Jakub Tolar², Sarah M Preusser², Megan J Riddle², Douglas R Keene³, Matthew Bower^{1

4}, Bharat Thyagarajan⁴, Christen L Ebens²

Affiliations

¹ Department of Genetics, University of Minnesota, Minneapolis, Minnesota.
² Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, Minnesota.
³ Shriners Hospital for Children, Minneapolis, Minnesota.
⁴ Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota.

No abstract available

Keywords: EB, epidermolysis bullosa; EBS, epidermolysis bullosa simplex; KRT5; autosomal recessive epidermolysis bullosa simplex; epidermolysis bullosa simplex; keratin; keratin 5; recessive epidermolysis bullosa simplex.

Publication types

Case Reports