Article

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with Epidermolysis bullosa

2023-03-16

Abstract excerpt

<title>Abstract</title> <p>Background: Epidermolysis bullosa (EB) is characterized by skin fragility and blistering. In Brazil, the diagnosis is usually obtained through immunomapping, which involve skin biopsy procedures. Most recently, Whole Exome Sequencing (WES) has become an important tool for the diagnosis of the subtypes of EB, providing information on prognosis as well as allowing appropriate genetic coun...

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Literature Corpus work: 2a904598-52bb-5666-b13a-56b34c0290dd
DOI: 10.21203/rs.3.rs-2675774/v1

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