A novel PLEC nonsense homozygous mutation (c.7159G   >  T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakne...

Source: BMC Dermatology - January 20, 2018 Category: Dermatology Authors: Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C. Branco, Raquel Senra, Ângela Reis-Rego and Luisa Mota-Vieira Tags: Case report Source Type: research