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Article

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

Anais brasileiros de dermatologia - 1 Jan 2000

Kelmann Samantha Vernaschi, Stephan Bruno de Oliveira, Barbosa Silvia Maria de Macedo, Polastrini Rita Tiziana Verardo, Oliveira Zilda Najjar Prado de, Rivitti-Machado Maria Cecília, Spolador Gustavo Marquezani, Honjo Rachel Sayuri, Saida Ken, Matsumoto Naomichi, Kim Chong Ae

Abstract excerpt

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 subtypes of EB, providing information on prognosis as well as allowing appropriate genetic counseling for the families. OBJECTIVE:...

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PMID: 38368142
DOI: 10.1016/j.abd.2023.07.002
PMCID: PMC11074559

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