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Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

The Ehlers-Danlos syndromes (EDS) are a group of heritable, connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There is phenotypic and genetic variation among the 13 subtypes. The initial genetic findings on EDS were related to alteration...

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Publicado en:Dev Dyn
Main Authors: Gensemer, Cortney, Burks, Randall, Kautz, Steven, Judge, Daniel P., Lavallee, Mark, Norris, Russell A.
Formato: Artigo
Idioma:Inglês
Publicado: 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7785693/
https://ncbi.nlm.nih.gov/pubmed/32629534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/dvdy.220
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