Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia

Detalhes bibliográficos
Autor(a) principal: Pinheiro,Marta
Data de Publicação: 1996
Outros Autores: Freire-Maia,Newton
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=S0100-84551996000400019
Resumo: We describe 27 subjects (11 women) from five generations of a family with an apparently hitherto undescribed ectodermal dysplasia. All of them presented dental and/or nail alterations only. A genetic analysis of the family suggests an autosomal dominant gene. Differential diagnosis considered eight conditions belonging to the same odonto-onychic (2-3) subgroup, as well as Fried's tooth and nail syndrome and hypodontia and nail dysgenesis (both in 1-2-3 subgroup).
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spelling Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasiaodonto-ungueal dysplasiaautosomal dominantectodermal dysplasiaWe describe 27 subjects (11 women) from five generations of a family with an apparently hitherto undescribed ectodermal dysplasia. All of them presented dental and/or nail alterations only. A genetic analysis of the family suggests an autosomal dominant gene. Differential diagnosis considered eight conditions belonging to the same odonto-onychic (2-3) subgroup, as well as Fried's tooth and nail syndrome and hypodontia and nail dysgenesis (both in 1-2-3 subgroup).Sociedade Brasileira de Genética1996-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400019Brazilian Journal of Genetics v.19 n.4 1996reponame:Brazilian Journal of Geneticsinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S0100-84551996000400019info:eu-repo/semantics/openAccessPinheiro,MartaFreire-Maia,Newtoneng2006-10-26T00:00:00Zoai:scielo:S0100-84551996000400019Revistahttps://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 Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia
title Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia
spellingShingle Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia
Pinheiro,Marta
odonto-ungueal dysplasia
autosomal dominant
ectodermal dysplasia
title_short Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia
title_full Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia
title_fullStr Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia
title_full_unstemmed Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia
title_sort Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia
author Pinheiro,Marta
author_facet Pinheiro,Marta
Freire-Maia,Newton
author_role author
author2 Freire-Maia,Newton
author2_role author
dc.contributor.author.fl_str_mv Pinheiro,Marta
Freire-Maia,Newton
dc.subject.por.fl_str_mv odonto-ungueal dysplasia
autosomal dominant
ectodermal dysplasia
topic odonto-ungueal dysplasia
autosomal dominant
ectodermal dysplasia
description We describe 27 subjects (11 women) from five generations of a family with an apparently hitherto undescribed ectodermal dysplasia. All of them presented dental and/or nail alterations only. A genetic analysis of the family suggests an autosomal dominant gene. Differential diagnosis considered eight conditions belonging to the same odonto-onychic (2-3) subgroup, as well as Fried's tooth and nail syndrome and hypodontia and nail dysgenesis (both in 1-2-3 subgroup).
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=S0100-84551996000400019
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400019
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0100-84551996000400019
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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