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

BACKGROUND: 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 weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMI...

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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Dermatol
Auteurs principaux: Argyropoulou, Zoe, Liu, Lu, Ozoemena, Linda, Branco, Claudia C., Senra, Raquel, Reis-Rego, Ângela, Mota-Vieira, Luisa
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5775598/
https://ncbi.nlm.nih.gov/pubmed/29352809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12895-018-0069-x
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