Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

Bibliographic Details
Main Author: Valsassina, R
Publication Date: 2020
Other Authors: Briosa, F, Soares, J, Amorim, M, Limbert, C
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10400.17/3543
Summary: 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 da Unidade Local de Saúde São JoséValsassina, 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/10400.17/3543eng10.1002/ccr3.3370info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-03-06T16:51:40Zoai:repositorio.chlc.pt:10400.17/3543Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T00:22:38.929099Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
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 da Unidade Local de Saúde São José
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 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:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
_version_ 1833600508678373376

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