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

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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Bibliographic Details
Main Authors: Sunitha Tella, Shehnaz Sultana, Sujatha Madireddy, Pratibha Nallari, Venkateshwari Ananthapur
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Indian Journal of Dermatology
Subjects:
autosomal recessive
col17a
epidermolysis bullosa
plec
skin blistering
Online Access:http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=1;spage=45;epage=49;aulast=Tella

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http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=1;spage=45;epage=49;aulast=Tella

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