Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes

Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS). Mutations in type VII collagen, encoded by COL7A1 lead to epidermolysis bullosa dystrophica (EBD). The...

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Detalles Bibliográficos
Autores principales: Tella, Sunitha, Sultana, Shehnaz, Madireddy, Sujatha, Nallari, Pratibha, Ananthapur, Venkateshwari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9154161/
https://www.ncbi.nlm.nih.gov/pubmed/35656234
http://dx.doi.org/10.4103/ijd.ijd_880_20

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