Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa

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, sc...

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Vydáno v:F1000Res
Hlavní autoři: Karuthedath Vellarikkal, Shamsudheen, Jayarajan, Rijith, Verma, Ankit, Nair, Sreelata, Ravi, Rowmika, Senthivel, Vigneshwar, Sivasubbu, Sridhar, Scaria, Vinod
Médium: Artigo
Jazyk:Inglês
Vydáno: F1000Research 2016
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Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4926754/
https://ncbi.nlm.nih.gov/pubmed/27408687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.8380.2
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