Publication:
Expanding the spectrum of PPP2R3C-related syndromic phenotypes to XX gonadal dysgenesis without ocular or muscular involvement

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dc.conference.dateJune 6-9, 2020
dc.conference.locationVirtual Conference
dc.conference.organizer53rd European Society of Human Genetics (ESHG) Conference
dc.contributor.coauthorShukla, A.
dc.contributor.coauthorEscande-Beillard, N.
dc.contributor.coauthorLedig, S.
dc.contributor.coauthorGirisha, K.
dc.contributor.coauthorKennerknecht, I.
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorAzaklı, Hülya
dc.contributor.kuauthorBörklü Yücel, Esra
dc.contributor.kuauthorEraslan, Serpil
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:26:12Z
dc.date.issued2020
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.openaccessNO
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.studentonlypublicationNo
dc.description.studentpublicationYes
dc.description.versionN/A
dc.identifier.WoSQuartileQ1
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.issn1018-4813
dc.identifier.issueSUPPL 1
dc.identifier.linkhttps://www.nature.com/articles/s41431-020-00739-z
dc.identifier.urihttps://hdl.handle.net/20.500.14288/11513
dc.identifier.volume28
dc.identifier.wos000598482601440
dc.keywordsSyndromic phenotype
dc.keywordsGonadal dysgenesis
dc.keywordsPPP2R3C protein
dc.language.isoeng
dc.publisherSpringer Nature
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.openaccessN/A
dc.rightsN/A
dc.subjectBiochemistry
dc.subjectMolecular biology
dc.subjectGenetics
dc.subjectHeredity
dc.titleExpanding the spectrum of PPP2R3C-related syndromic phenotypes to XX gonadal dysgenesis without ocular or muscular involvement
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorAltunoğlu, Umut
local.contributor.kuauthorBörklü Yücel, Esra
local.contributor.kuauthorAzaklı, Hülya
local.contributor.kuauthorEraslan, Serpil
local.contributor.kuauthorKayserili, Hülya
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relation.isParentOrgUnitOfPublication17f2dc8e-6e54-4fa8-b5e0-d6415123a93e
relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

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