Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?

Detalhes bibliográficos
Autor(a) principal: Roth,Maria da Graça Martino
Data de Publicação: 1996
Outros Autores: Garcias,Gilberto de Lima, Ferreira,Fátima Lassalete Soares
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Brazilian Journal of Genetics
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400018
Resumo: We report a male with imperforate anus, pedunculated triphalangeal thumbs, hemifacial microsomia, microtia, preauricular tags and cardiac anomalies. This is the first individual with Townes-Brocks syndrome to have hydrocephalus.
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spelling Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?Townes-Brockshemifacialmicrosomia-VACTERLWe report a male with imperforate anus, pedunculated triphalangeal thumbs, hemifacial microsomia, microtia, preauricular tags and cardiac anomalies. This is the first individual with Townes-Brocks syndrome to have hydrocephalus.Sociedade Brasileira de Genética1996-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400018Brazilian Journal of Genetics v.19 n.4 1996reponame:Brazilian Journal of Geneticsinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S0100-84551996000400018info:eu-repo/semantics/openAccessRoth,Maria da Graça MartinoGarcias,Gilberto de LimaFerreira,Fátima Lassalete Soareseng2006-10-26T00:00:00Zoai:scielo:S0100-84551996000400018Revistahttps://www.gmb.org.br/brazilian-journal-of-geneticsONGhttps://old.scielo.br/oai/scielo-oai.phpsede@sgb.org.br || sede@sgb.org.br0100-84550100-8455opendoar:2006-10-26T00:00Brazilian Journal of Genetics - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?
title Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?
spellingShingle Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?
Roth,Maria da Graça Martino
Townes-Brocks
hemifacial
microsomia-VACTERL
title_short Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?
title_full Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?
title_fullStr Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?
title_full_unstemmed Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?
title_sort Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?
author Roth,Maria da Graça Martino
author_facet Roth,Maria da Graça Martino
Garcias,Gilberto de Lima
Ferreira,Fátima Lassalete Soares
author_role author
author2 Garcias,Gilberto de Lima
Ferreira,Fátima Lassalete Soares
author2_role author
author
dc.contributor.author.fl_str_mv Roth,Maria da Graça Martino
Garcias,Gilberto de Lima
Ferreira,Fátima Lassalete Soares
dc.subject.por.fl_str_mv Townes-Brocks
hemifacial
microsomia-VACTERL
topic Townes-Brocks
hemifacial
microsomia-VACTERL
description We report a male with imperforate anus, pedunculated triphalangeal thumbs, hemifacial microsomia, microtia, preauricular tags and cardiac anomalies. This is the first individual with Townes-Brocks syndrome to have hydrocephalus.
publishDate 1996
dc.date.none.fl_str_mv 1996-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400018
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400018
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0100-84551996000400018
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 Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Brazilian Journal of Genetics v.19 n.4 1996
reponame:Brazilian Journal of Genetics
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Brazilian Journal of Genetics
collection Brazilian Journal of Genetics
repository.name.fl_str_mv Brazilian Journal of Genetics - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv sede@sgb.org.br || sede@sgb.org.br
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