MARFAN SYNDROME IN A FAMILY IN THE INTERIOR OF MINAS GERAIS CASE REPORT AND REVIEW (Atena Editora)

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MetadadosDescriçãoIdioma
Autor(es): dc.contributor.authorALMEIDA, BIANCA VICTÓRIA RESENDE E-
Autor(es): dc.contributor.authorALMEIDA, GIULIA MANUELLA RESENDE E-
Autor(es): dc.contributor.authorDRIGO, ADRIANA VIEIRA-
Autor(es): dc.contributor.authorROCHA, GABRIELLE CAROLLINE RIBEIRO-
Autor(es): dc.contributor.authorBRENNER, LUDIMILA MENDONÇA-
Autor(es): dc.contributor.authorANDRADE, ISADORA MARQUES-
Data de aceite: dc.date.accessioned2023-09-08T16:28:01Z-
Data de disponibilização: dc.date.available2023-09-08T16:28:01Z-
Data de envio: dc.date.issued2023-09-05-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/capes/737865-
Resumo: dc.description.abstractMarfan Syndrome (SFM) is a rare condition of the connective tissue, of autosomal dominant origin, intra and interfamilial variable expressivity, pleitropy and does not show predilection for gender, ethnicity, or geographic distribution. It is a multisystem disease, whose main phenotypic manifestations involve the skeletal, cardiovascular and ocular systems. The diagnosis of FMS can be performed clinically through the Ghent nosology criteria or by molecular biology examination to identify mutations in the fibrillin-1 gene. In this report, we describe the clinical conditions of patients from the same family, all of whom have the syndrome. The objective is to describe the genetic dominance of the disease, as well as the main symptoms and repercussions.pt_BR
Idioma: dc.language.isoenpt_BR
Palavras-chave: dc.subjectMarfan Syndromept_BR
Título: dc.titleMARFAN SYNDROME IN A FAMILY IN THE INTERIOR OF MINAS GERAIS CASE REPORT AND REVIEW (Atena Editora)pt_BR
Tipo de arquivo: dc.typelivro digitalpt_BR
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