Bardet-Biedl syndrome.

Detalhes bibliográficos
Autor(a) principal: Siopa, Luís
Data de Publicação: 2002
Outros Autores: Grego, Manuela, Cossa, Joel, Pinguinha, Alberto
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905
Resumo: Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men. The authors present a typical case and made a brief commentary about the disease's cardinal manifestations.
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spelling Bardet-Biedl syndrome.Síndroma de Bardet-Biedl.Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men. The authors present a typical case and made a brief commentary about the disease's cardinal manifestations.Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men. The authors present a typical case and made a brief commentary about the disease's cardinal manifestations.Ordem dos Médicos2002-02-27info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905oai:ojs.www.actamedicaportuguesa.com:article/1905Acta Médica Portuguesa; Vol. 15 No. 1 (2002): Janeiro-Fevereiro; 51-54Acta Médica Portuguesa; Vol. 15 N.º 1 (2002): Janeiro-Fevereiro; 51-541646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905/1473Siopa, LuísGrego, ManuelaCossa, JoelPinguinha, Albertoinfo:eu-repo/semantics/openAccess2022-12-20T10:59:28Zoai:ojs.www.actamedicaportuguesa.com:article/1905Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:17:28.294231Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Bardet-Biedl syndrome.
Síndroma de Bardet-Biedl.
title Bardet-Biedl syndrome.
spellingShingle Bardet-Biedl syndrome.
Siopa, Luís
title_short Bardet-Biedl syndrome.
title_full Bardet-Biedl syndrome.
title_fullStr Bardet-Biedl syndrome.
title_full_unstemmed Bardet-Biedl syndrome.
title_sort Bardet-Biedl syndrome.
author Siopa, Luís
author_facet Siopa, Luís
Grego, Manuela
Cossa, Joel
Pinguinha, Alberto
author_role author
author2 Grego, Manuela
Cossa, Joel
Pinguinha, Alberto
author2_role author
author
author
dc.contributor.author.fl_str_mv Siopa, Luís
Grego, Manuela
Cossa, Joel
Pinguinha, Alberto
description Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men. The authors present a typical case and made a brief commentary about the disease's cardinal manifestations.
publishDate 2002
dc.date.none.fl_str_mv 2002-02-27
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dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.uri.fl_str_mv https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905
oai:ojs.www.actamedicaportuguesa.com:article/1905
url https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905
identifier_str_mv oai:ojs.www.actamedicaportuguesa.com:article/1905
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905/1473
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Ordem dos Médicos
publisher.none.fl_str_mv Ordem dos Médicos
dc.source.none.fl_str_mv Acta Médica Portuguesa; Vol. 15 No. 1 (2002): Janeiro-Fevereiro; 51-54
Acta Médica Portuguesa; Vol. 15 N.º 1 (2002): Janeiro-Fevereiro; 51-54
1646-0758
0870-399X
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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