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NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME

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dc.contributor.authorRichiericosta, A.
dc.contributor.authorGuionalmeida, M. L.
dc.contributor.authorLauris, JRP
dc.contributor.authorFerreira, D. M.
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-20T15:29:19Z
dc.date.available2014-05-20T15:29:19Z
dc.date.issued1994-01-15
dc.description.abstractWe report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachy-camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. (C) 1994 Wiley-Liss, Inc.en
dc.description.affiliationUNIV ESTADUAL PAULISTA,INST BIOCIENCIAS,SERV ACONSELHAMENTO GENET,BOTUCATU,SP,BRAZIL
dc.description.affiliationUnespUNIV ESTADUAL PAULISTA,INST BIOCIENCIAS,SERV ACONSELHAMENTO GENET,BOTUCATU,SP,BRAZIL
dc.format.extent224-228
dc.identifierhttp://dx.doi.org/10.1002/ajmg.1320490213
dc.identifier.citationAmerican Journal of Medical Genetics. New York: Wiley-liss, v. 49, n. 2, p. 224-228, 1994.
dc.identifier.dimensionspub.1012259475
dc.identifier.doi10.1002/ajmg.1320490213
dc.identifier.issn0148-7299
dc.identifier.issn1096-8628
dc.identifier.lattes6250622352641608
dc.identifier.orcid0000-0002-9256-7623
dc.identifier.orcid0000-0003-3475-4479
dc.identifier.pmid8116673
dc.identifier.urihttp://hdl.handle.net/11449/38928
dc.identifier.wosWOS:A1994MP33000012
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.publisherWiley
dc.relation.ispartofAmerican Journal of Medical Genetics
dc.rights.accessRightsAcesso restritopt
dc.sourceWeb of Science
dc.sourceDimensions
dc.subjectBLEPHAROPHIMOSISpt
dc.subjectSMALL EARSpt
dc.subjectCAMPTODACTYLYpt
dc.subjectPECTUS EXCAVATUMpt
dc.subjectCONSANGUINITYpt
dc.subjectAUTOSOMAL RECESSIVE INHERITANCEpt
dc.titleNEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROMEen
dc.typeArtigopt
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dcterms.rightsHolderWiley-Blackwell
dspace.entity.typePublication
relation.isOrgUnitOfPublicationab63624f-c491-4ac7-bd2c-767f17ac838d
relation.isOrgUnitOfPublication.latestForDiscoveryab63624f-c491-4ac7-bd2c-767f17ac838d
unesp.author.lattes6250622352641608
unesp.author.orcid0000-0003-3475-4479[3]
unesp.campusUniversidade Estadual Paulista (UNESP), Instituto de Biociências, Botucatupt
unesp.departmentGenética - IBBpt

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Botucatu - IBB - Instituto de Biociências