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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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Ritelli, Marco, Venturini, Marina, Cinquina, Valeria, Chiarelli, Nicola, Colombi, Marina
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7393722/
https://ncbi.nlm.nih.gov/pubmed/32736638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01470-0
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