Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

Detalhes bibliográficos
Autor(a) principal: Valsassina, R
Data de Publicação: 2020
Outros Autores: Briosa, F, Soares, J, Amorim, M, Limbert, C
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/3543
Resumo: The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.
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spelling Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblingsHypogonadotropicHypogonadismHeterozygous mutations TACR3SiblingsHDE END PEDHDE GENThe authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.John Wiley & Sons LtdRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEValsassina, RBriosa, FSoares, JAmorim, MLimbert, C2021-01-22T16:07:15Z2020-122020-12-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/3543engClin Case Rep . 2020 Sep 22;8(12):3126-312910.1002/ccr3.3370info: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:RCAAP2023-03-10T09:43:30ZPortal AgregadorONG
dc.title.none.fl_str_mv Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
title Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
spellingShingle Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
Valsassina, R
Hypogonadotropic
Hypogonadism
Heterozygous mutations TACR3
Siblings
HDE END PED
HDE GEN
title_short Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
title_full Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
title_fullStr Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
title_full_unstemmed Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
title_sort Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
author Valsassina, R
author_facet Valsassina, R
Briosa, F
Soares, J
Amorim, M
Limbert, C
author_role author
author2 Briosa, F
Soares, J
Amorim, M
Limbert, C
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Valsassina, R
Briosa, F
Soares, J
Amorim, M
Limbert, C
dc.subject.por.fl_str_mv Hypogonadotropic
Hypogonadism
Heterozygous mutations TACR3
Siblings
HDE END PED
HDE GEN
topic Hypogonadotropic
Hypogonadism
Heterozygous mutations TACR3
Siblings
HDE END PED
HDE GEN
description The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.
publishDate 2020
dc.date.none.fl_str_mv 2020-12
2020-12-01T00:00:00Z
2021-01-22T16:07:15Z
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/10400.17/3543
url http://hdl.handle.net/10400.17/3543
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Clin Case Rep . 2020 Sep 22;8(12):3126-3129
10.1002/ccr3.3370
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 John Wiley & Sons Ltd
publisher.none.fl_str_mv John Wiley & Sons Ltd
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
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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repository.mail.fl_str_mv
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