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

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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.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorBörklü Yücel, Esra
dc.contributor.kuauthorAzaklı, Hülya
dc.contributor.kuauthorEraslan, Serpil
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuprofileFaculty Member
dc.contributor.kuprofileOther
dc.contributor.kuprofilePhD Student
dc.contributor.kuprofileResearcher
dc.contributor.kuprofileFaculty Member
dc.contributor.yokid126174
dc.contributor.yokidN/A
dc.contributor.yokidN/A
dc.contributor.yokidN/A
dc.contributor.yokid7945
dc.date.accessioned2024-11-09T23:26:12Z
dc.date.issued2020
dc.description.abstractN/A
dc.description.indexedbyWoS
dc.description.issueSUPPL 1
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.volume28
dc.identifier.doiN/A
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ1
dc.identifier.urihttps://hdl.handle.net/20.500.14288/11513
dc.identifier.wos598482601440
dc.keywordsN/A
dc.languageEnglish
dc.publisherSpringernature
dc.sourceEuropean Journal of Human Genetics
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.authorid0000-0002-3172-5368
local.contributor.authorid0000-0002-1326-0608
local.contributor.authorid0000-0001-6073-0724
local.contributor.authorid0000-0002-7674-7384
local.contributor.authorid0000-0003-0376-499X
local.contributor.kuauthorAltunoğlu, Umut
local.contributor.kuauthorBörklü Yücel, Esra
local.contributor.kuauthorAzaklı, Hülya
local.contributor.kuauthorEraslan, Serpil
local.contributor.kuauthorKayserili, Hülya
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1Graduate School of Health Sciences
local.publication.orgunit2School of Medicine
relation.isOrgUnitOfPublicationd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isOrgUnitOfPublication.latestForDiscoveryd02929e1-2a70-44f0-ae17-7819f587bedd

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