Novel mutations in fibronectin associated with metaphyseal fractures - Expanding the phenotype of patients with a subtype of spondylomethaphyseal dysplasia with ""corner fractures""

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorALM, Jessica J.
dc.contributor.authorCOSTANTINI, Alice
dc.contributor.authorVALTA, Helena
dc.contributor.authorBARATANG, Nissan Vida
dc.contributor.authorYAP, Patrick
dc.contributor.authorBERTOLA, Debora
dc.contributor.authorYAMAMOTO, Guilherme
dc.contributor.authorKIM, Chong A.
dc.contributor.authorCHEN, Jiani
dc.contributor.authorWIERENGA, Klaas J.
dc.contributor.authorFANNING, Elizabeth A.
dc.contributor.authorESCOBAR, Luis
dc.contributor.authorMCWALTER, Kirsty
dc.contributor.authorMCLAUGHLIN, Heather
dc.contributor.authorWILLAERT, Rebecca
dc.contributor.authorBEGTRUP, Amber
dc.contributor.authorREINHARDT, Dieter P.
dc.contributor.authorMAKITIE, Outi
dc.contributor.authorCAMPEAU, Philippe M.
dc.date.accessioned2019-01-29T17:10:52Z
dc.date.available2019-01-29T17:10:52Z
dc.date.issued2018
dc.description.conferencedateSEP 28-OCT 01, 2018
dc.description.conferencelocalMontreal, CANADA
dc.description.conferencenameAnnual Meeting of the American-Society-for-Bone-and-Mineral-Research
dc.description.indexMEDLINEeng
dc.identifier.citationJOURNAL OF BONE AND MINERAL RESEARCH, v.33, suppl.1, p.417-417, 2018
dc.identifier.eissn1523-4681
dc.identifier.issn0884-0431
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/30523
dc.language.isoeng
dc.publisherWILEYeng
dc.relation.ispartofJournal of Bone and Mineral Research
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright WILEYeng
dc.subject.wosEndocrinology & Metabolismeng
dc.titleNovel mutations in fibronectin associated with metaphyseal fractures - Expanding the phenotype of patients with a subtype of spondylomethaphyseal dysplasia with ""corner fractures""eng
dc.typeconferenceObjecteng
dc.type.categorymeeting abstracteng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryFinlândia
hcfmusp.affiliation.countryNova Zelândia
hcfmusp.affiliation.countryEstados Unidos
hcfmusp.affiliation.countryCanadá
hcfmusp.affiliation.countrySuécia
hcfmusp.affiliation.countryisonz
hcfmusp.affiliation.countryisose
hcfmusp.affiliation.countryisofi
hcfmusp.affiliation.countryisoca
hcfmusp.affiliation.countryisous
hcfmusp.author.externalALM, Jessica J.:Karolinska Inst, Ctr Mol Med, Clin Genet, Stockholm, Sweden; Genet Hlth Serv New Zealand Northern Hub, Palmerston North, New Zealand
hcfmusp.author.externalCOSTANTINI, Alice:Karolinska Inst, Ctr Mol Med, Clin Genet, Stockholm, Sweden
hcfmusp.author.externalVALTA, Helena:Univ Helsinki, Childrens Hosp, Helsinki, Finland; Helsinki Univ Hosp, Helsinki, Finland
hcfmusp.author.externalBARATANG, Nissan Vida:Univ Montr, CHU St Justine Res Ctr, Montreal, PQ, Canada
hcfmusp.author.externalCHEN, Jiani:Univ Oklahoma, Hlth Sci Ctr, Norman, OK 73019 USA
hcfmusp.author.externalWIERENGA, Klaas J.:Univ Oklahoma, Hlth Sci Ctr, Norman, OK 73019 USA
hcfmusp.author.externalFANNING, Elizabeth A.:Univ Oklahoma, Hlth Sci Ctr, Norman, OK 73019 USA
hcfmusp.author.externalESCOBAR, Luis:St Vincent Childrens Hosp, Med Genet & Neurodev Pediat, Indianapolis, IN USA
hcfmusp.author.externalMCWALTER, Kirsty:GeneDx, Gaithersburg, MD USA
hcfmusp.author.externalMCLAUGHLIN, Heather:GeneDx, Gaithersburg, MD USA
hcfmusp.author.externalWILLAERT, Rebecca:GeneDx, Gaithersburg, MD USA
hcfmusp.author.externalBEGTRUP, Amber:GeneDx, Gaithersburg, MD USA
hcfmusp.author.externalREINHARDT, Dieter P.:McGill Univ, Dept Anat & Cell Biol, Montreal, PQ, Canada
hcfmusp.author.externalMAKITIE, Outi:Karolinska Inst, Ctr Mol Med, Clin Genet, Stockholm, Sweden; Univ Helsinki, Childrens Hosp, Helsinki, Finland; Helsinki Univ Hosp, Helsinki, Finland
hcfmusp.author.externalCAMPEAU, Philippe M.:Univ Montr, CHU St Justine Res Ctr, Montreal, PQ, Canada; Univ Montreal, Dept Pediat, Montreal, PQ, Canada
hcfmusp.contributor.author-fmusphcDEBORA ROMEO BERTOLA
hcfmusp.contributor.author-fmusphcGUILHERME LOPES YAMAMOTO
hcfmusp.contributor.author-fmusphcCHONG AE KIM
hcfmusp.description.beginpage417
hcfmusp.description.endpage417
hcfmusp.description.issuesuppl 1
hcfmusp.description.volume33
hcfmusp.origemWOS
hcfmusp.origem.wosWOS:000450475402077
hcfmusp.publisher.cityHOBOKENeng
hcfmusp.publisher.countryUSAeng
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relation.isAuthorOfPublication559bec50-6065-481f-8b2e-5c1ed0e27ef0
relation.isAuthorOfPublication8715370a-1e5f-4af6-a1c4-ee31748e12a3
relation.isAuthorOfPublication.latestForDiscoveryfc3f0957-77e4-44ad-8653-61f285bfcc94
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Comunicações em Eventos - FM/MPE
Comunicações em Eventos - HC/ICr
Comunicações em Eventos - LIM/36