Syndrome in question

Detalhes bibliográficos
Autor(a) principal: Peixoto,Isy Lima
Data de Publicação: 2014
Outros Autores: Carreno,Ana Maria, Prazeres,Vania Mesquita Gadelha, Chirano,Caroline Albuquerque Rodrigues, Ihara,Gabriel Maroja, Akel,Patricia Bandeira de Melo
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Anais brasileiros de dermatologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962014000601005
Resumo: Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes.
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spelling Syndrome in questionCostello syndromeGenes, rasProto-oncogenesCostello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes.Sociedade Brasileira de Dermatologia2014-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962014000601005Anais Brasileiros de Dermatologia v.89 n.6 2014reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20143062info:eu-repo/semantics/openAccessPeixoto,Isy LimaCarreno,Ana MariaPrazeres,Vania Mesquita GadelhaChirano,Caroline Albuquerque RodriguesIhara,Gabriel MarojaAkel,Patricia Bandeira de Meloeng2015-03-25T00:00:00Zoai:scielo:S0365-05962014000601005Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2015-03-25T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv Syndrome in question
title Syndrome in question
spellingShingle Syndrome in question
Peixoto,Isy Lima
Costello syndrome
Genes, ras
Proto-oncogenes
title_short Syndrome in question
title_full Syndrome in question
title_fullStr Syndrome in question
title_full_unstemmed Syndrome in question
title_sort Syndrome in question
author Peixoto,Isy Lima
author_facet Peixoto,Isy Lima
Carreno,Ana Maria
Prazeres,Vania Mesquita Gadelha
Chirano,Caroline Albuquerque Rodrigues
Ihara,Gabriel Maroja
Akel,Patricia Bandeira de Melo
author_role author
author2 Carreno,Ana Maria
Prazeres,Vania Mesquita Gadelha
Chirano,Caroline Albuquerque Rodrigues
Ihara,Gabriel Maroja
Akel,Patricia Bandeira de Melo
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Peixoto,Isy Lima
Carreno,Ana Maria
Prazeres,Vania Mesquita Gadelha
Chirano,Caroline Albuquerque Rodrigues
Ihara,Gabriel Maroja
Akel,Patricia Bandeira de Melo
dc.subject.por.fl_str_mv Costello syndrome
Genes, ras
Proto-oncogenes
topic Costello syndrome
Genes, ras
Proto-oncogenes
description Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes.
publishDate 2014
dc.date.none.fl_str_mv 2014-12-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962014000601005
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962014000601005
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20143062
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Dermatologia
publisher.none.fl_str_mv Sociedade Brasileira de Dermatologia
dc.source.none.fl_str_mv Anais Brasileiros de Dermatologia v.89 n.6 2014
reponame:Anais brasileiros de dermatologia (Online)
instname:Sociedade Brasileira de Dermatologia (SBD)
instacron:SBD
instname_str Sociedade Brasileira de Dermatologia (SBD)
instacron_str SBD
institution SBD
reponame_str Anais brasileiros de dermatologia (Online)
collection Anais brasileiros de dermatologia (Online)
repository.name.fl_str_mv Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)
repository.mail.fl_str_mv abd@sbd.org.br||revista@sbd.org.br
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