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

dc.contributorUniversidade Estadual Paulista (UNESP)
dc.creatorRichieri-Costa, A.
dc.creatorFrota-Pessoa, O.
dc.date2014-05-26T16:02:24Z
dc.date2016-10-25T21:25:29Z
dc.date2014-05-26T16:02:24Z
dc.date2016-10-25T21:25:29Z
dc.date1979-01-01
dc.date.accessioned2017-04-06T09:37:58Z
dc.date.available2017-04-06T09:37:58Z
dc.identifierHuman Heredity, v. 29, n. 5, p. 293-297, 1979.
dc.identifier0001-5652
dc.identifierhttp://hdl.handle.net/11449/63444
dc.identifierhttp://acervodigital.unesp.br/handle/11449/63444
dc.identifier10.1159/000153060
dc.identifierWOS:A1979HN46900007
dc.identifier2-s2.0-0018291955
dc.identifierhttp://dx.doi.org/10.1159/000153060
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/942829
dc.descriptionTwo 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.
dc.languageeng
dc.publisherKarger
dc.relationHuman Heredity
dc.rightsinfo:eu-repo/semantics/closedAccess
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 sisters
dc.typeOtro


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