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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Detalhes bibliográficos
Publicado no:F1000Res
Main Authors: Karuthedath Vellarikkal, Shamsudheen, Jayarajan, Rijith, Verma, Ankit, Nair, Sreelata, Ravi, Rowmika, Senthivel, Vigneshwar, Sivasubbu, Sridhar, Scaria, Vinod
Formato: Artigo
Idioma:Inglês
Publicado em: F1000Research 2016
Assuntos:
Case Report
Acesso em linha: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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