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

Abstract 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...

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Principais autores: Marco Ritelli, Marina Venturini, Valeria Cinquina, Nicola Chiarelli, Marina Colombi
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2020-07-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Classical Ehlers-Danlos syndrome
Nosology
Atrophic scars
Skin hyperextensibility
Joint hypermobility
Multisystemic involvement
Online adgang:http://link.springer.com/article/10.1186/s13023-020-01470-0
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