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dc.contributor.authorGonçalves, Ana Caroline Gabriel-
dc.contributor.authorMoretti, Patricia Natália Silva-
dc.contributor.authorCordoba, Mara Santos-
dc.contributor.authorOliveira, Renata Santarem de-
dc.contributor.authorLopes, Fernanda Sousa Cardoso-
dc.contributor.authorOliveira, Silviene Fabiana de-
dc.contributor.authorPic-Taylor, Aline-
dc.contributor.authorCastro, Luiz Claudio-
dc.contributor.authorAraújo, Juliana Forte Mazzeu de-
dc.date.accessioned2022-08-02T23:17:35Z-
dc.date.available2022-08-02T23:17:35Z-
dc.date.issued2022-01-25-
dc.identifier.citationGONÇALVES, Ana Caroline G. et al. SHORT syndrome in an adult Brazilian patient. American journal of medical genetics, v. 188, n. 5, p. 1635-1638, maio 2022. DOI 10.1002/ajmg.a.62660. Disponível em: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.62660. Acesso em: 02 ago. 2022.pt_BR
dc.identifier.urihttps://repositorio.unb.br/handle/10482/44391-
dc.language.isoInglêspt_BR
dc.publisherWileypt_BR
dc.rightsAcesso Restritopt_BR
dc.titleSHORT syndrome in an adult Brazilian patientpt_BR
dc.typeArtigopt_BR
dc.subject.keywordSíndrome SHORTpt_BR
dc.subject.keywordResistência à insulinapt_BR
dc.subject.keywordSíndrome metabólicapt_BR
dc.identifier.doihttps://doi.org/10.1002/ajmg.a.62660pt_BR
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.62660pt_BR
dc.description.abstract1We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs previously described in SHORT syndrome, the patient presented here also shows microcephaly and intellectual disability. Diagnosis was confirmed by exome sequencing revealing a novel heterozygous variant c.1456G>A (p.Ala486Thr) at PIK3R1. Human recombinant growth hormone (r-hGH) therapy was administered prior to diagnosis; however, the use of r-hGH may have had a role in anticipating and worsening the glucose metabolic profile in the patient, as previously described. This article contributes to providing a better understanding of the SHORT syndrome genotype and its correlation with the phenotype, by comparing with it other reported cases.pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-5121-8814pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-6161-0510pt_BR
dc.contributor.emailmailto:julianamazzeu@unb.brpt_BR
dc.contributor.affiliationUniversidade de Brasíliapt_BR
dc.description.unidadeFaculdade de Medicina (FM)-
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