NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME

dc.contributorUniversidade Estadual Paulista (UNESP)
dc.creatorRichiericosta, A.
dc.creatorGuionalmeida, M. L.
dc.creatorLauris, JRP
dc.creatorFerreira, D. M.
dc.date2014-05-20T15:29:19Z
dc.date2016-10-25T18:04:34Z
dc.date2014-05-20T15:29:19Z
dc.date2016-10-25T18:04:34Z
dc.date1994-01-15
dc.date.accessioned2017-04-06T00:11:26Z
dc.date.available2017-04-06T00:11:26Z
dc.identifierAmerican Journal of Medical Genetics. New York: Wiley-liss, v. 49, n. 2, p. 224-228, 1994.
dc.identifier0148-7299
dc.identifierhttp://hdl.handle.net/11449/38928
dc.identifierhttp://acervodigital.unesp.br/handle/11449/38928
dc.identifier10.1002/ajmg.1320490213
dc.identifierWOS:A1994MP33000012
dc.identifierhttp://dx.doi.org/10.1002/ajmg.1320490213
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/881939
dc.descriptionWe 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.
dc.languageeng
dc.publisherWiley-Blackwell
dc.relationAmerican Journal of Medical Genetics
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectBLEPHAROPHIMOSIS
dc.subjectSMALL EARS
dc.subjectCAMPTODACTYLY
dc.subjectPECTUS EXCAVATUM
dc.subjectCONSANGUINITY
dc.subjectAUTOSOMAL RECESSIVE INHERITANCE
dc.titleNEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME
dc.typeOtro


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