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

• Main Authors: Samantha Vernaschi Kelmann (Author), Bruno de Oliveira Stephan (Author), Silvia Maria de Macedo Barbosa (Author), Rita Tiziana Verardo Polastrini (Author), Zilda Najjar Prado de Oliveira (Author), Maria Cecília Rivitti-Machado (Author), Gustavo Marquezani Spolador (Author), Rachel Sayuri Honjo (Author), Ken Saida (Author), Naomichi Matsumoto (Author), Chong Ae Kim (Author)
• Format: Book
• Published: Sociedade Brasileira de Dermatologia, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Epidermolysis bullosa (EB) is characterized by skin fragility and blistering. In Brazil, the diagnosis is usually obtained through immunomapping, which involves a skin biopsy. Most recently, whole exome sequencing (WES) has become an important tool for the diagnosis of the subtyp...