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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.doi10.1002/ajmg.1320490213
dc.identifier.issn0148-7299
dc.identifier.lattes6250622352641608
dc.identifier.urihttp://hdl.handle.net/11449/38928
dc.identifier.wosWOS:A1994MP33000012
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.subjectBLEPHAROPHIMOSISpt
dc.subjectSMALL EARSpt
dc.subjectCAMPTODACTYLYpt
dc.subjectPECTUS EXCAVATUMpt
dc.subjectCONSANGUINITYpt
dc.subjectAUTOSOMAL RECESSIVE INHERITANCEpt
dc.titleNEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROMEen
dc.typeArtigo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dcterms.rightsHolderWiley-Blackwell
dspace.entity.typePublication
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