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Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters

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dc.contributor.authorRichieri-Costa, A.
dc.contributor.authorFrota-Pessoa, O.
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-26T16:02:24Z
dc.date.available2014-05-26T16:02:24Z
dc.date.issued1979-01-01
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.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.format.extent293-297
dc.identifierhttp://dx.doi.org/10.1159/000153060
dc.identifier.citationHuman Heredity, v. 29, n. 5, p. 293-297, 1979.
dc.identifier.doi10.1159/000153060
dc.identifier.issn0001-5652
dc.identifier.scopus2-s2.0-0018291955
dc.identifier.urihttp://hdl.handle.net/11449/63444
dc.identifier.wosWOS:A1979HN46900007
dc.language.isoeng
dc.publisherKarger
dc.relation.ispartofHuman Heredity
dc.relation.ispartofjcr0.542
dc.relation.ispartofsjr0,604
dc.rights.accessRightsAcesso restrito
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.typeArtigo
dcterms.licensehttp://www.karger.com/Services/RightsPermissions
dcterms.rightsHolderKarger
dspace.entity.typePublication
unesp.campusUniversidade Estadual Paulista (UNESP), Faculdade de Medicina, Botucatupt
unesp.departmentNeurologia, Psicologia e Psiquiatria - FMBpt

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Botucatu - FMB - Faculdade de Medicina