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

por Argyropoulou, Zoe, Liu, Lu, Ozoemena, Linda, Branco, Claudia C., Senra, Raquel, Reis-Rego, Ângela, Mota-Vieira, Luisa
Publicado 2018