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A fatal progeroid syndrome caused by a recessive RAF1 loss-of-function mutation

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dc.contributor.coauthorWong, Samantha
dc.contributor.coauthorTan, Yu Xuan
dc.contributor.coauthorTan, Kiat Yi
dc.contributor.coauthorLoh, Abigail
dc.contributor.coauthorOzkan, Engin
dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuauthorReversade, Bruno
dc.contributor.kuauthorBeillard, Nathalie Sonia Escande
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.date.accessioned2024-12-29T09:37:19Z
dc.date.issued2023
dc.description.indexedbyWoS
dc.description.issueSupplement 1
dc.description.publisherscopeInternational
dc.description.volume31
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22320
dc.identifier.wos1050507001618
dc.keywordsBiochemistry and molecular biology
dc.keywordsGenetics and heredity
dc.languageen
dc.publisherSpringernature
dc.sourceEuropean Journal of Human Genetics
dc.subjectMedicine
dc.titleA fatal progeroid syndrome caused by a recessive RAF1 loss-of-function mutation
dc.typeMeeting abstract
dspace.entity.typePublication
local.contributor.kuauthorKayserili, Hülya
local.contributor.kuauthorReversade, Bruno
local.contributor.kuauthorBeillard, Nathalie Sonia Escande
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1KUH (KOÇ UNIVERSITY HOSPITAL)
local.publication.orgunit2KUH (Koç University Hospital)
local.publication.orgunit2School of Medicine
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