Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/353598
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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampSilveira, Karina da Costapt_BR
dc.contributor.authorunicampMoreno, Carolina Araujopt_BR
dc.contributor.authorunicampCavalcanti, Denise Pontespt_BR
dc.typeOutros documentospt_BR
dc.titleBeemer-langer syndrome is a ciliopathy due to biallelic mutations in IFT122pt_BR
dc.contributor.authorSilveira, Karina C.pt_BR
dc.contributor.authorMoreno, Carolina A.pt_BR
dc.contributor.authorCavalcanti, Denise P.pt_BR
dc.subjectEdemapt_BR
dc.subjectEdemapt_BR
dc.description.abstractSince most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer syndromept_BR
dc.relation.ispartofAmerican journal of medical genetics, part Apt_BR
dc.relation.ispartofabbreviationAm. j. med. genet. Apt_BR
dc.publisher.cityHoboken, NJpt_BR
dc.publisher.countryEstados Unidospt_BR
dc.publisherJohn Wiley & Sonspt_BR
dc.date.issued2017pt_BR
dc.date.monthofcirculationMaypt_BR
dc.language.isoengpt_BR
dc.description.volume173pt_BR
dc.description.issuenumber5pt_BR
dc.description.firstpage1186pt_BR
dc.description.lastpage1189pt_BR
dc.rightsFechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn1552-4825pt_BR
dc.identifier.eissn1552-4833pt_BR
dc.identifier.doi10.1002/ajmg.a.38157pt_BR
dc.identifier.urlhttps://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.38157pt_BR
dc.description.sponsorshipFAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOpt_BR
dc.description.sponsorshipCNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICOpt_BR
dc.description.sponsorship1FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOpt_BR
dc.description.sponsorship1CNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICOpt_BR
dc.description.sponsordocumentnumber98/16006-6pt_BR
dc.description.sponsordocumentnumber2015/22145-6pt_BR
dc.description.sponsordocumentnumber590148/2011-7pt_BR
dc.date.available2021-01-04T20:49:20Z-
dc.date.accessioned2021-01-04T20:49:20Z-
dc.description.provenanceMade available in DSpace on 2021-01-04T20:49:20Z (GMT). No. of bitstreams: 1 000399691500008.pdf: 795491 bytes, checksum: 1e5580eb2d39fb031199cc07e0e66cce (MD5) Previous issue date: 2017en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/353598-
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.departmentDepartamento de Genética Médicapt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.identifier.source000399691500008pt_BR
dc.creator.orcid0000-0001-9114-9481pt_BR
dc.creator.orcidsem informaçãopt_BR
dc.creator.orcidsem informaçãopt_BR
dc.type.formRelatóriopt_BR
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