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http://acervodigital.unesp.br/handle/11449/38928
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DC Field | Value | Language |
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dc.contributor.author | Richiericosta, A. | - |
dc.contributor.author | Guionalmeida, M. L. | - |
dc.contributor.author | Lauris, JRP | - |
dc.contributor.author | Ferreira, D. M. | - |
dc.date.accessioned | 2014-05-20T15:29:19Z | - |
dc.date.accessioned | 2016-10-25T18:04:34Z | - |
dc.date.available | 2014-05-20T15:29:19Z | - |
dc.date.available | 2016-10-25T18:04:34Z | - |
dc.date.issued | 1994-01-15 | - |
dc.identifier | http://dx.doi.org/10.1002/ajmg.1320490213 | - |
dc.identifier.citation | American Journal of Medical Genetics. New York: Wiley-liss, v. 49, n. 2, p. 224-228, 1994. | - |
dc.identifier.issn | 0148-7299 | - |
dc.identifier.uri | http://hdl.handle.net/11449/38928 | - |
dc.identifier.uri | http://acervodigital.unesp.br/handle/11449/38928 | - |
dc.description.abstract | We 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.format.extent | 224-228 | - |
dc.language.iso | eng | - |
dc.publisher | Wiley-Blackwell | - |
dc.source | Web of Science | - |
dc.subject | BLEPHAROPHIMOSIS | pt |
dc.subject | SMALL EARS | pt |
dc.subject | CAMPTODACTYLY | pt |
dc.subject | PECTUS EXCAVATUM | pt |
dc.subject | CONSANGUINITY | pt |
dc.subject | AUTOSOMAL RECESSIVE INHERITANCE | pt |
dc.title | NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME | en |
dc.type | outro | - |
dc.contributor.institution | Universidade Estadual Paulista (UNESP) | - |
dc.description.affiliation | UNIV ESTADUAL PAULISTA,INST BIOCIENCIAS,SERV ACONSELHAMENTO GENET,BOTUCATU,SP,BRAZIL | - |
dc.description.affiliationUnesp | UNIV ESTADUAL PAULISTA,INST BIOCIENCIAS,SERV ACONSELHAMENTO GENET,BOTUCATU,SP,BRAZIL | - |
dc.identifier.doi | 10.1002/ajmg.1320490213 | - |
dc.identifier.wos | WOS:A1994MP33000012 | - |
dc.rights.accessRights | Acesso restrito | - |
dc.relation.ispartof | American Journal of Medical Genetics | - |
Appears in Collections: | Artigos, TCCs, Teses e Dissertações da Unesp |
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