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A newly recognized syndrome of marfanoid habitus; Long face; Hypotelorism; Long, thin nose; Long, thin hands and feet; and a specific pattern of language and learning disabilities

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dc.contributor.authorGiacheti, Célia Maria [UNESP]
dc.contributor.authorZanchetta, Sthella
dc.contributor.authorMaranhe, Elizandra
dc.contributor.authorCassab, Tatiana V.
dc.contributor.authorAbran-Tides, Dagma V.
dc.contributor.authorSouza, Deise H.
dc.contributor.authorDeVitto, Luciana P. M.
dc.contributor.authorRichieri-Costa, Antonio
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-20T13:31:25Z
dc.date.available2014-05-20T13:31:25Z
dc.date.issued2007-12-15
dc.description.abstractHere, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance. (C) 2007 Wiley-Liss, Inc.en
dc.description.affiliationUniv São Paulo, HRAC, Serv Genet Clin, BR-17012900 Bauru, SP, Brazil
dc.description.affiliationUNESP, Dept Fonoaudiol, Marilia, SP, Brazil
dc.description.affiliationUnespUNESP, Dept Fonoaudiol, Marilia, SP, Brazil
dc.format.extent3137-3139
dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.32024
dc.identifier.citationAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 24, p. 3137-3139, 2007.
dc.identifier.doi10.1002/ajmg.a.32024
dc.identifier.issn1552-4825
dc.identifier.lattes2331180822532901
dc.identifier.urihttp://hdl.handle.net/11449/10696
dc.identifier.wosWOS:000251405100034
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.relation.ispartofjcr2.264
dc.relation.ispartofsjr1,098
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.subjecttall staturept
dc.subjectminor facial anomaliespt
dc.subjectspecific language and learning problemspt
dc.subjectautosomal dominant inheritancept
dc.subjectnew syndromept
dc.subject22q21 regionpt
dc.titleA newly recognized syndrome of marfanoid habitus; Long face; Hypotelorism; Long, thin nose; Long, thin hands and feet; and a specific pattern of language and learning disabilitiesen
dc.typeArtigo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dcterms.rightsHolderWiley-Blackwell
dspace.entity.typePublication
unesp.author.lattes2331180822532901[1]
unesp.author.orcid0000-0001-9691-4672[1]
unesp.campusUniversidade Estadual Paulista (UNESP), Faculdade de Filosofia e Ciências, Maríliapt
unesp.departmentFonoaudiologia - FFCpt

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Marília - FFC - Faculdade de Filosofia e Ciências