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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.departmentGraduate School of Health Sciences
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorAzaklı, Hülya
dc.contributor.kuauthorBörklü Yücel, Esra
dc.contributor.kuauthorEraslan, Serpil
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:26:12Z
dc.date.issued2020
dc.description.indexedbyWOS
dc.description.issueSUPPL 1
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume28
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.language.isoeng
dc.publisherSpringernature
dc.relation.ispartofEuropean 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.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
local.publication.orgunit2Graduate School of Health Sciences
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