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Article

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

Clinical genetics - 1 Jan 2021

Mariath Luiza Monteavaro, Santin Juliana Tosetto, Frantz Jeanine Aparecida, Doriqui Maria Juliana Rodovalho, Schuler-Faccini Lavínia, Kiszewski Ana Elisa

Abstract excerpt

Congenital absence of skin (CAS) is a clinical sign associated with the main types of epidermolysis bullosa (EB). Very few studies have investigated the genetic background that may influence the occurrence of this condition. Our objective was to investigate genotype-phenotype correlations on EB with CAS through a literature revision on the pathogenic variants previously reported. A total of 171 cases (49 EB...

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Identifiers

PMID: 32506467
DOI: 10.1111/cge.13792

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