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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleEctodermal Dysplasia With Acanthosis Nigricans (lelis Syndrome).pt_BR
dc.contributor.authorSteiner, Carlos Eduardopt_BR
dc.contributor.authorCintra, Maria Letíciapt_BR
dc.contributor.authorMarques-de-Faria, Antonia Paulapt_BR
unicamp.authorCarlos Eduardo Steiner, Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil.pt_BR
unicamp.author.externalMaria Letícia Cintra,pt
unicamp.author.externalAntonia Paula Marques-de-Faria,pt
dc.subjectAbnormalities, Multiplept_BR
dc.subjectAcanthosis Nigricanspt_BR
dc.subjectAdultpt_BR
dc.subjectDiagnosis, Differentialpt_BR
dc.subjectEctodermal Dysplasiapt_BR
dc.subjectHumanspt_BR
dc.subjectIntellectual Disabilitypt_BR
dc.subjectKeratoderma, Palmoplantarpt_BR
dc.subjectMalept_BR
dc.subjectSyndromept_BR
dc.description.abstractA 31-year-old male patient with ectodermal dysplasia and acanthosis nigricans is described. Clinical findings included hypotrichosis, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early onset loss of permanent dentition, mental retardation, and acanthosis nigricans. The findings suggest the diagnosis of Lelis syndrome, as described on the basis of seven unrelated cases. A review concerning this condition is also presented.en
dc.relation.ispartofAmerican Journal Of Medical Geneticspt_BR
dc.relation.ispartofabbreviationAm. J. Med. Genet.pt_BR
dc.date.issued2002-Decpt_BR
dc.identifier.citationAmerican Journal Of Medical Genetics. v. 113, n. 4, p. 381-4, 2002-Dec.pt_BR
dc.language.isoengpt_BR
dc.description.volume113pt_BR
dc.description.firstpage381-4pt_BR
dc.rightsfechadopt_BR
dc.rights.holderCopyright 2002 Wiley-Liss, Inc.pt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn0148-7299pt_BR
dc.identifier.doi10.1002/ajmg.b.10787pt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/12457412pt_BR
dc.date.available2015-11-27T12:49:24Z-
dc.date.accessioned2015-11-27T12:49:24Z-
dc.description.provenanceMade available in DSpace on 2015-11-27T12:49:24Z (GMT). No. of bitstreams: 1 pmed_12457412.pdf: 184715 bytes, checksum: 657da791a2b4aa80a96fd902372261d8 (MD5) Previous issue date: 2002en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/195205-
dc.identifier.idPubmed12457412pt_BR
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