You are in the accessibility menu

Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/63444
Full metadata record
DC FieldValueLanguage
dc.contributor.authorRichieri-Costa, A.-
dc.contributor.authorFrota-Pessoa, O.-
dc.date.accessioned2014-05-26T16:02:24Z-
dc.date.accessioned2016-10-25T21:25:29Z-
dc.date.available2014-05-26T16:02:24Z-
dc.date.available2016-10-25T21:25:29Z-
dc.date.issued1979-01-01-
dc.identifierhttp://dx.doi.org/10.1159/000153060-
dc.identifier.citationHuman Heredity, v. 29, n. 5, p. 293-297, 1979.-
dc.identifier.issn0001-5652-
dc.identifier.urihttp://hdl.handle.net/11449/63444-
dc.identifier.urihttp://acervodigital.unesp.br/handle/11449/63444-
dc.description.abstractTwo daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here.en
dc.format.extent293-297-
dc.language.isoeng-
dc.publisherKarger-
dc.sourceScopus-
dc.subjectatrichia-
dc.subjectcase report-
dc.subjectcentral nervous system-
dc.subjectcongenital disorder-
dc.subjectelectroencephalography-
dc.subjectepilepsy-
dc.subjectheredity-
dc.subjectinheritance-
dc.subjectmental deficiency-
dc.subjectschool child-
dc.subjectseizure-
dc.subjectsibling-
dc.subjectskin disease-
dc.subjectchild-
dc.subjectcongenital malformation-
dc.subjectcongenital skin disease-
dc.subjectfemale-
dc.subjectgenetics-
dc.subjecthair-
dc.subjecthuman-
dc.subjectmultiple malformation syndrome-
dc.subjectsyndrome-
dc.subjectAbnormalities, Multiple-
dc.subjectCase Report-
dc.subjectChild-
dc.subjectElectroencephalography-
dc.subjectEpilepsy-
dc.subjectFemale-
dc.subjectHair-
dc.subjectHuman-
dc.subjectMental Retardation-
dc.subjectSkin Abnormalities-
dc.subjectSyndrome-
dc.titleAtrichia, abnormal EEG, epilepsy and mental retardation in two sistersen
dc.typeoutro-
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)-
dc.description.affiliationUNIV SAO PAULO,DEPT BIOL,GENET HUMANA LAB,SAO PAULO 01000,SP,BRAZIL-
dc.description.affiliationUNESP,FAC MED,DEPT NEUROL,BOTUCATU,BRAZIL-
dc.description.affiliationUnespUNESP,FAC MED,DEPT NEUROL,BOTUCATU,BRAZIL-
dc.identifier.doi10.1159/000153060-
dc.identifier.wosWOS:A1979HN46900007-
dc.rights.accessRightsAcesso restrito-
dc.relation.ispartofHuman Heredity-
dc.identifier.scopus2-s2.0-0018291955-
Appears in Collections:Artigos, TCCs, Teses e Dissertações da Unesp

There are no files associated with this item.
Show simple item record Show full item record   View Statistics
 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.