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Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach

Mariath, Luiza Monteavaro; Kiszewski, Ana Elisa; Frantz, Jeanine Aparecida; Siebert, Marina; Matte, Ursula; Schuler-Faccini, Lavínia.
An. bras. dermatol; 96 (2), 2021
Abstract Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is ...
Biopsia, Vesícula, Brasil, Epidermólisis Ampollosa/diagnóstico, Epidermólisis Ampollosa/genética, Piel
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Inherited epidermolysis bullosa: update on the clinical and genetic aspects

Mariath, Luiza Monteavaro; Santin, Juliana Tosetto; Schuler-Faccini, Lavínia; Kiszewski, Ana Elisa.
An. bras. dermatol; 95 (5), 2020
Abstract Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to...
Vesícula, Epidermólisis Ampollosa Distrófica/genética, Epidermólisis Ampollosa/genética, Epidermólisis Ampollosa de la Unión/genética, Piel
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