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Article: Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the α2(I) chain of type I collagen

TitleDisrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the α2(I) chain of type I collagen
Authors
Cole, WGChan, DChow, CWRogers, JGBateman, JF
KeywordsDisrupted growth plates
Osteogenesis imperfecta
Progressive deformity
Issue Date1996
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal Of Medical Genetics, 1996, v. 33 n. 11, p. 968-971 How to Cite?
DOI: http://dx.doi.org/10.1136/jmg.33.11.968
AbstractThe skeleton of a child with osteogenesis imperfecta type III, resulting from the substitution of glycine 586 by valine in the triple helical domain of the α2(I) chain of type I collagen, was severely porotic but contained lamellar bone and Haversian systems. From early childhood, structural failure of the bone resulted in the disruption of growth plates, progressive bone deformities, and severe growth retardation.
Persistent Identifierhttp://hdl.handle.net/10722/147406
ISSN
0022-2593
2023 Impact Factor: 3.5
2023 SCImago Journal Rankings: 1.690
ISI Accession Number ID
WOS:A1996VU42300015
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorCole, WGen_US
dc.contributor.authorChan, Den_US
dc.contributor.authorChow, CWen_US
dc.contributor.authorRogers, JGen_US
dc.contributor.authorBateman, JFen_US
dc.date.accessioned2012-05-29T06:03:30Z-
dc.date.available2012-05-29T06:03:30Z-
dc.date.issued1996en_US
dc.identifier.citationJournal Of Medical Genetics, 1996, v. 33 n. 11, p. 968-971en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttp://hdl.handle.net/10722/147406-
dc.description.abstractThe skeleton of a child with osteogenesis imperfecta type III, resulting from the substitution of glycine 586 by valine in the triple helical domain of the α2(I) chain of type I collagen, was severely porotic but contained lamellar bone and Haversian systems. From early childhood, structural failure of the bone resulted in the disruption of growth plates, progressive bone deformities, and severe growth retardation.en_US
dc.languageengen_US
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/en_US
dc.relation.ispartofJournal of Medical Geneticsen_US
dc.subjectDisrupted growth plates-
dc.subjectOsteogenesis imperfecta-
dc.subjectProgressive deformity-
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshArm - Abnormalities - Pathologyen_US
dc.subject.meshBone And Bones - Radiographyen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshCollagen - Chemistry - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGlycine - Geneticsen_US
dc.subject.meshGrowth Plate - Pathologyen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshOsteogenesis Imperfecta - Genetics - Pathology - Radiographyen_US
dc.subject.meshPregnancyen_US
dc.subject.meshThorax - Abnormalitiesen_US
dc.subject.meshValine - Geneticsen_US
dc.titleDisrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the α2(I) chain of type I collagenen_US
dc.typeArticleen_US
dc.identifier.emailChan, D:chand@hkucc.hku.hken_US
dc.identifier.authorityChan, D=rp00540en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1136/jmg.33.11.968-
dc.identifier.pmid8950681-
dc.identifier.scopuseid_2-s2.0-0029848586en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0029848586&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume33en_US
dc.identifier.issue11en_US
dc.identifier.spage968en_US
dc.identifier.epage971en_US
dc.identifier.isiWOS:A1996VU42300015-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridCole, WG=7201518727en_US
dc.identifier.scopusauthoridChan, D=7402216545en_US
dc.identifier.scopusauthoridChow, CW=7402578595en_US
dc.identifier.scopusauthoridRogers, JG=7404268782en_US
dc.identifier.scopusauthoridBateman, JF=16135557700en_US
dc.identifier.issnl0022-2593-

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