Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review
Abstract
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 simplex, EBS; 23 junctional EB, JEB;...
Paper Details
Title
Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review
Published Date
Jun 29, 2020
Journal
Volume
99
Issue
1
Pages
29 - 41
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