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

2018Journal article Open access
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dc.contributor.authorDemain, LAM
dc.contributor.authorAntunes, D
dc.contributor.authorO'Sullivan, J
dc.contributor.authorBhaskhar, SS
dc.contributor.authorO'Keefe, RT
dc.contributor.authorNewman, WG
dc.date.accessioned2020-05-22T13:46:36Z
dc.date.available2020-05-22T13:46:36Z
dc.date.issued2018
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationClin Genet . 2018 Aug;94(2):276-277.pt_PT
dc.identifier.doi10.1111/cge.13255pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/3465
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.subjectCell Cycle Proteinspt_PT
dc.subjectFemalept_PT
dc.subjectGonadal Dysgenesis, 46,XXpt_PT
dc.subjectHearing Loss, Sensorineuralpt_PT
dc.subjectHumanspt_PT
dc.subjectKidney Diseasespt_PT
dc.subjectMitochondriapt_PT
dc.subjectWhole Exome Sequencingpt_PT
dc.subjectGenetic Predisposition to Diseasept_PT
dc.subjectHDE GENpt_PT
dc.titleA Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defectspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage277pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage276pt_PT
oaire.citation.titleClinical geneticspt_PT
oaire.citation.volume94pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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