Syndrome in Question

Detalhes bibliográficos
Autor(a) principal: Peruzzo,Juliano
Data de Publicação: 2015
Outros Autores: Nazar,Fernanda Luca, Tubone,Mariana Quirino, Escobar,Gabriela Fortes, Cestari,Tania Ferreira
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=S0365-05962015000400589
Resumo: AbstractWaardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.
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spelling Syndrome in QuestionSkin diseases, geneticGenetic diseases, inbornDeafnessWaardenburg syndromeAbstractWaardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.Sociedade Brasileira de Dermatologia2015-08-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962015000400589Anais Brasileiros de Dermatologia v.90 n.4 2015reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20153343info:eu-repo/semantics/openAccessPeruzzo,JulianoNazar,Fernanda LucaTubone,Mariana QuirinoEscobar,Gabriela FortesCestari,Tania Ferreiraeng2015-09-08T00:00:00Zoai:scielo:S0365-05962015000400589Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2015-09-08T00:00Anais 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
Peruzzo,Juliano
Skin diseases, genetic
Genetic diseases, inborn
Deafness
Waardenburg syndrome
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 Peruzzo,Juliano
author_facet Peruzzo,Juliano
Nazar,Fernanda Luca
Tubone,Mariana Quirino
Escobar,Gabriela Fortes
Cestari,Tania Ferreira
author_role author
author2 Nazar,Fernanda Luca
Tubone,Mariana Quirino
Escobar,Gabriela Fortes
Cestari,Tania Ferreira
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Peruzzo,Juliano
Nazar,Fernanda Luca
Tubone,Mariana Quirino
Escobar,Gabriela Fortes
Cestari,Tania Ferreira
dc.subject.por.fl_str_mv Skin diseases, genetic
Genetic diseases, inborn
Deafness
Waardenburg syndrome
topic Skin diseases, genetic
Genetic diseases, inborn
Deafness
Waardenburg syndrome
description AbstractWaardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.
publishDate 2015
dc.date.none.fl_str_mv 2015-08-01
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=S0365-05962015000400589
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962015000400589
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20153343
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.90 n.4 2015
reponame:Anais brasileiros de dermatologia (Online)
instname:Sociedade Brasileira de Dermatologia (SBD)
instacron:SBD
instname_str Sociedade Brasileira de Dermatologia (SBD)
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reponame_str Anais brasileiros de dermatologia (Online)
collection Anais brasileiros de dermatologia (Online)
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repository.mail.fl_str_mv abd@sbd.org.br||revista@sbd.org.br
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