Hypotrichosis with Juvenile Macular Dystrophy

Detalhes bibliográficos
Autor(a) principal: Almeida, FT
Data de Publicação: 2018
Outros Autores: Carneiro-Freitas, R, Caldas, R, Vieira, AP
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.23/1298
Resumo: Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis.
id RCAP_bdb9aaf4cfeeb7d3775bec9ebe3d18a5
oai_identifier_str oai:repositorio.hospitaldebraga.pt:10400.23/1298
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str
spelling Hypotrichosis with Juvenile Macular DystrophyHipotricoseDegeneração MacularHypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis.Repositório Científico do Hospital de BragaAlmeida, FTCarneiro-Freitas, RCaldas, RVieira, AP2019-01-18T12:21:25Z2018-01-01T00:00:00Z2018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.23/1298engInt J Trichology. 2018 Sep-Oct;10(5):234-236.10.4103/ijt.ijt_60_18info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-21T09:03:12ZPortal AgregadorONG
dc.title.none.fl_str_mv Hypotrichosis with Juvenile Macular Dystrophy
title Hypotrichosis with Juvenile Macular Dystrophy
spellingShingle Hypotrichosis with Juvenile Macular Dystrophy
Almeida, FT
Hipotricose
Degeneração Macular
title_short Hypotrichosis with Juvenile Macular Dystrophy
title_full Hypotrichosis with Juvenile Macular Dystrophy
title_fullStr Hypotrichosis with Juvenile Macular Dystrophy
title_full_unstemmed Hypotrichosis with Juvenile Macular Dystrophy
title_sort Hypotrichosis with Juvenile Macular Dystrophy
author Almeida, FT
author_facet Almeida, FT
Carneiro-Freitas, R
Caldas, R
Vieira, AP
author_role author
author2 Carneiro-Freitas, R
Caldas, R
Vieira, AP
author2_role author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Hospital de Braga
dc.contributor.author.fl_str_mv Almeida, FT
Carneiro-Freitas, R
Caldas, R
Vieira, AP
dc.subject.por.fl_str_mv Hipotricose
Degeneração Macular
topic Hipotricose
Degeneração Macular
description Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis.
publishDate 2018
dc.date.none.fl_str_mv 2018-01-01T00:00:00Z
2018-01-01T00:00:00Z
2019-01-18T12:21:25Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.23/1298
url http://hdl.handle.net/10400.23/1298
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Int J Trichology. 2018 Sep-Oct;10(5):234-236.
10.4103/ijt.ijt_60_18
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.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1777301472436813824

Registros relacionados