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http://acervodigital.unesp.br/handle/11449/10696
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DC Field | Value | Language |
---|---|---|
dc.contributor.author | Giacheti, Célia Maria | - |
dc.contributor.author | Zanchetta, Sthella | - |
dc.contributor.author | Maranhe, Elizandra | - |
dc.contributor.author | Cassab, Tatiana V. | - |
dc.contributor.author | Abran-Tides, Dagma V. | - |
dc.contributor.author | Souza, Deise H. | - |
dc.contributor.author | DeVitto, Luciana P. M. | - |
dc.contributor.author | Richieri-Costa, Antonio | - |
dc.date.accessioned | 2014-05-20T13:31:25Z | - |
dc.date.accessioned | 2016-10-25T16:50:05Z | - |
dc.date.available | 2014-05-20T13:31:25Z | - |
dc.date.available | 2016-10-25T16:50:05Z | - |
dc.date.issued | 2007-12-15 | - |
dc.identifier | http://dx.doi.org/10.1002/ajmg.a.32024 | - |
dc.identifier.citation | American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 24, p. 3137-3139, 2007. | - |
dc.identifier.issn | 1552-4825 | - |
dc.identifier.uri | http://hdl.handle.net/11449/10696 | - |
dc.identifier.uri | http://acervodigital.unesp.br/handle/11449/10696 | - |
dc.description.abstract | Here, 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.format.extent | 3137-3139 | - |
dc.language.iso | eng | - |
dc.publisher | Wiley-Blackwell | - |
dc.source | Web of Science | - |
dc.subject | tall stature | pt |
dc.subject | minor facial anomalies | pt |
dc.subject | specific language and learning problems | pt |
dc.subject | autosomal dominant inheritance | pt |
dc.subject | new syndrome | pt |
dc.subject | 22q21 region | pt |
dc.title | 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 | en |
dc.type | outro | - |
dc.contributor.institution | Universidade de São Paulo (USP) | - |
dc.contributor.institution | Universidade Estadual Paulista (UNESP) | - |
dc.description.affiliation | Univ São Paulo, HRAC, Serv Genet Clin, BR-17012900 Bauru, SP, Brazil | - |
dc.description.affiliation | UNESP, Dept Fonoaudiol, Marilia, SP, Brazil | - |
dc.description.affiliationUnesp | UNESP, Dept Fonoaudiol, Marilia, SP, Brazil | - |
dc.identifier.doi | 10.1002/ajmg.a.32024 | - |
dc.identifier.wos | WOS:000251405100034 | - |
dc.rights.accessRights | Acesso restrito | - |
dc.relation.ispartof | American Journal of Medical Genetics Part A | - |
Appears in Collections: | Artigos, TCCs, Teses e Dissertações da Unesp |
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