Jaccoud’s arthropathy in osteogenesis imperfecta

Publicação

dc.contributor.author	Martins, Frederico Rajão
dc.contributor.author	Rocha, Margarida Lucas
dc.contributor.author	Chícharo, Ana Teodósio
dc.contributor.author	Teixeira, Vítor Silvestre
dc.date.accessioned	2024-11-23T09:42:12Z
dc.date.available	2024-11-23T09:42:12Z
dc.date.issued	2024-02-01
dc.description.abstract	Type I osteogenesis imperfecta is a genetic disease associated with mutations in the pro-alpha1 chains of type 1 collagen encoder gene COL1A1. It has an autosomal dominant pattern of inheritance, and leads to reduction in the amount of structurally normal collagen and subsequently, disorders of the extracellular membrane of skin, tendons and bone.	eng
dc.identifier.doi	10.4078/jrd.2023.0090
dc.identifier.eissn	2233-4718
dc.identifier.issn	2093-940X
dc.identifier.uri	http://hdl.handle.net/10400.1/26328
dc.language.iso	eng
dc.peerreviewed	yes
dc.publisher	Korean College of Rheumatology
dc.relation.hasversion	https://www.jrd.or.kr/journal/view.html?doi=10.4078/jrd.2023.0090
dc.relation.ispartof	Journal of Rheumatic Diseases
dc.rights.uri	http://creativecommons.org/licenses/by-nc/4.0/
dc.title	Jaccoud’s arthropathy in osteogenesis imperfecta
dc.type	journal article
dspace.entity.type	Publication
oaire.citation.endPage	189
oaire.citation.issue	3
oaire.citation.startPage	188
oaire.citation.title	Journal of Rheumatic Diseases
oaire.citation.volume	31
oaire.version	http://purl.org/coar/version/c_970fb48d4fbd8a85

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