A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

BACKGROUND: The Ehlers-Danlos Syndrome (EDS) is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. The classic subtype of EDS is caused by mutations in one of the type V collagen genes (COL5A1 and COL5A2). Most mutations affec...

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Detalhes bibliográficos
Main Authors: Symoens, Sofie, Malfait, Fransiska, Vlummens, Philip, Hermanns-Lê, Trinh, Syx, Delfien, De Paepe, Anne
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3096658/
https://ncbi.nlm.nih.gov/pubmed/21611149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0020121
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