Article
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
Journal of medical genetics - 1 Jul 2011
Kiritsi Dimitra, Kern Johannes S, Schumann Hauke, Kohlhase Jürgen, Has Cristina, Bruckner-Tuderman Leena
Abstract excerpt
BACKGROUND: Junctional epidermolysis bullosa (JEB), a group of hereditary skin fragility disorders, is associated with a wide variety of phenotypes, although all forms are characterised by trauma induced skin blistering and tissue separation at the dermal-epidermal junction zone. A subgroup, coined JEB-other, is associated with mutations in the COL17A1 gene encoding collagen XVII or, more rarely, with mutations...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.