Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.23/1270
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dc.contributor.authorMoutinho, A-
dc.contributor.authorCarvalho, R-
dc.contributor.authorFerreira-Reis, R-
dc.contributor.authorTavares, S-
dc.date.accessioned2018-07-06T11:26:30Z-
dc.date.available2018-07-06T11:26:30Z-
dc.date.issued2018-
dc.identifier.citationCase Rep Endocrinol. 2018 Jan 22;2018:7813591.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.23/1270-
dc.description.abstractINTRODUCTION: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype. MATERIALS AND METHODS: DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report. RESULTS: We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c.524_530+3del). CONCLUSION: Pseudohypoparathyroidism type 1a is mostly caused by inactivating GNAS mutations that have been gradually reported in the literature that lead to a typical and complex clinical phenotype and resistance to multiple hormones. The deletion caused by the mutation identified in the presented case has not been reported previously.pt_PT
dc.language.isoengpt_PT
dc.rightsopenAccesspt_PT
dc.subjectAnálise Mutacional de DNApt_PT
dc.subjectPseudo-Hipoparatireoidismo/genéticapt_PT
dc.subjectPredisposição Genética para Doençapt_PT
dc.titleIdentification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1apt_PT
dc.typearticlept_PT
dc.peerreviewedyespt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
degois.publication.firstPage7813591pt_PT
degois.publication.lastPage4pt_PT
degois.publication.volume2018pt_PT
dc.identifier.doi10.1155/2018/7813591pt_PT
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