Epidermolysis bullosa: A report of three cases with novel heterozygous deletions in PLEC and homozygous non sense mutations in COL7A1 genes

• Glavni autori: Sunitha Tella (Autor), Shehnaz Sultana (Autor), Sujatha Madireddy (Autor), Pratibha Nallari (Autor), Venkateshwari Ananthapur (Autor)
• Format: Knjiga
• Izdano: Wolters Kluwer Medknow Publications, 2022-01-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

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...