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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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Detalles Bibliográficos
Autores principales:	Karuthedath Vellarikkal, Shamsudheen, Jayarajan, Rijith, Verma, Ankit, Nair, Sreelata, Ravi, Rowmika, Senthivel, Vigneshwar, Sivasubbu, Sridhar, Scaria, Vinod
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	F1000Research 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926754/ https://www.ncbi.nlm.nih.gov/pubmed/27408687 http://dx.doi.org/10.12688/f1000research.8380.2

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