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

Carter Ellis; Chelsea Eason; Alan Snyder; Mark Siegel; Gurpur Shashidhar Pai; Erin Ryan; Ellen G Pfendner; Lara Wine Lee

doi:10.1016/j.jdcr.2021.03.016

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

JAAD Case Rep. 2021 Mar 20:11:63-68. doi: 10.1016/j.jdcr.2021.03.016. eCollection 2021 May.

Authors

Carter Ellis¹, Chelsea Eason², Alan Snyder¹, Mark Siegel^{2

3}, Gurpur Shashidhar Pai⁴, Erin Ryan⁵, Ellen G Pfendner⁶, Lara Wine Lee^{2

3}

Affiliations

¹ College of Medicine, Medical University of South Carolina, Charleston, South Carolina.
² Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina.
³ Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina.
⁴ Department of Genetics, Medical University of South Carolina, Charleston, South Carolina.
⁵ Clinical Genomics Program, GeneDx Inc, Gaithersburg, Maryland.
⁶ Epidermolysis Bullosa Diagnostics Program, GeneDx Inc, Gaithersburg, Maryland.

No abstract available

Keywords: EB, epidermolysis bullosa; EB-PA, epidermolysis bullosa-pyloric atresia; EB-PA-OU, epidermolysis bullosa-pyloric atresia with obstructive uropathy; JEB, junctional epidermolysis bullosa; PTC, premature termination codon; epidermolysis bullosa; genetic diseases/mechanisms; skin signs of systemic disease; vesicoureteric disorders.

Publication types

Case Reports