Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis.

Leah LalorMatthias TiteuxFrancis PalissonIgnacia FuentesMaría J YuberoKaisa TasanenLaura HuilajaCristina HasGianluca Tadini Anita N HaggstromAlain HovnanianAnne W Lucky

Published in: Pediatric dermatology (2018)

Early recognition of the features of this genotype will improve care. In silico analysis of mutated keratin structures provides useful insights into structural instability.

Keyphrases

molecular docking
healthcare
palliative care
quality improvement
early onset
high resolution
pain management