Ontology highlight
ABSTRACT:
SUBMITTER: Karuthedath Vellarikkal S
PROVIDER: S-EPMC4926754 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Karuthedath Vellarikkal Shamsudheen S Jayarajan Rijith R Verma Ankit A Nair Sreelata S Ravi Rowmika R Senthivel Vigneshwar V Sivasubbu Sridhar S Scaria Vinod V
F1000Research 20160517
Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB) is more severe. In the present study, we identify a novel p.G2254 ...[more]