A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects

Bibliographic Details
Main Author: Demain, LAM
Publication Date: 2018
Other Authors: Antunes, D, O'Sullivan, J, Bhaskhar, SS, O'Keefe, RT, Newman, WG
Format: Article
Language: eng
Source: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Download full: http://hdl.handle.net/10400.17/3465
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spelling A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal DefectsCell Cycle ProteinsFemaleGonadal Dysgenesis, 46,XXHearing Loss, SensorineuralHumansKidney DiseasesMitochondriaWhole Exome SequencingGenetic Predisposition to DiseaseHDE GENWileyRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEDemain, LAMAntunes, DO'Sullivan, JBhaskhar, SSO'Keefe, RTNewman, WG2020-05-22T13:46:36Z20182018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/3465engClin Genet . 2018 Aug;94(2):276-277.10.1111/cge.13255info: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:RCAAP2023-03-10T09:43:09Zoai:repositorio.chlc.min-saude.pt:10400.17/3465Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:20:46.590452Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects
title A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects
spellingShingle A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects
Demain, LAM
Cell Cycle Proteins
Female
Gonadal Dysgenesis, 46,XX
Hearing Loss, Sensorineural
Humans
Kidney Diseases
Mitochondria
Whole Exome Sequencing
Genetic Predisposition to Disease
HDE GEN
title_short A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects
title_full A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects
title_fullStr A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects
title_full_unstemmed A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects
title_sort A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects
author Demain, LAM
author_facet Demain, LAM
Antunes, D
O'Sullivan, J
Bhaskhar, SS
O'Keefe, RT
Newman, WG
author_role author
author2 Antunes, D
O'Sullivan, J
Bhaskhar, SS
O'Keefe, RT
Newman, WG
author2_role author
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 Demain, LAM
Antunes, D
O'Sullivan, J
Bhaskhar, SS
O'Keefe, RT
Newman, WG
dc.subject.por.fl_str_mv Cell Cycle Proteins
Female
Gonadal Dysgenesis, 46,XX
Hearing Loss, Sensorineural
Humans
Kidney Diseases
Mitochondria
Whole Exome Sequencing
Genetic Predisposition to Disease
HDE GEN
topic Cell Cycle Proteins
Female
Gonadal Dysgenesis, 46,XX
Hearing Loss, Sensorineural
Humans
Kidney Diseases
Mitochondria
Whole Exome Sequencing
Genetic Predisposition to Disease
HDE GEN
publishDate 2018
dc.date.none.fl_str_mv 2018
2018-01-01T00:00:00Z
2020-05-22T13:46:36Z
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/10400.17/3465
url http://hdl.handle.net/10400.17/3465
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Clin Genet . 2018 Aug;94(2):276-277.
10.1111/cge.13255
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 Wiley
publisher.none.fl_str_mv Wiley
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 Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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