Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts

Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which is a fibrillar COLL widely distributed in a variety of connective tissues. cEDS patients suffer from skin hyper...

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Detalles Bibliográficos
Publicado en:PLoS One
Main Authors: Chiarelli, Nicola, Carini, Giulia, Zoppi, Nicoletta, Ritelli, Marco, Colombi, Marina
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2019
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6361458/
https://ncbi.nlm.nih.gov/pubmed/30716086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0211647
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