Ontology highlight
ABSTRACT:
SUBMITTER: Venti V
PROVIDER: S-EPMC6995948 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Molecular syndromology 20191116 6
Epidermolysis bullosa (EB) encompasses a group of inheritable skin disorders characterized by various degrees of epithelial fragility that lead to cutaneous and mucosal blistering following negligible mechanical traumas. These disorders are clinically and genetically heterogeneous, ranging from mild skin involvement to severe disabling conditions with associated manifestations affecting the gastrointestinal and vesico-urinary tracts. EB may be classified into 4 main categories: simplex, junction ...[more]