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Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

BACKGROUND: The Ehlers-Danlos syndromes (EDS) are rare connective tissue disorders consisting of 13 subtypes with overlapping features including joint hypermobility, skin and generalized connective tissue fragility. Classical EDS (cEDS) is principally caused by heterozygous COL5A1 or COL5A2 variants...

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Detalles Bibliográficos
Autores principales:	Ritelli, Marco, Venturini, Marina, Cinquina, Valeria, Chiarelli, Nicola, Colombi, Marina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393722/ https://www.ncbi.nlm.nih.gov/pubmed/32736638 http://dx.doi.org/10.1186/s13023-020-01470-0

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