Publication:
A progeroid syndrome with severe osteogenesis imperfecta segregates with an intronic TAPT1 homozygous variant that creates a knockout allele

Simple item page
dc.contributor.coauthorBressin, Annkatrin
dc.contributor.coauthorChia, PohHui
dc.contributor.coauthorTraspas, Ricardo Moreno
dc.contributor.coauthorBonnard, Carine
dc.contributor.coauthorHojat, Zohreh
dc.contributor.coauthorDrutman, Scott
dc.contributor.coauthorCasanova, Jean-Laurent
dc.contributor.coauthorShboul, Mohammad
dc.contributor.coauthorMayor, Andreas
dc.contributor.kuauthorNabavizadeh, Nasrinsadat
dc.contributor.kuauthorBeillard, Nathalie Sonia Escande
dc.contributor.kuauthorReversade, Bruno
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.date.accessioned2024-12-29T09:37:19Z
dc.date.issued2023
dc.description.indexedbyWoS
dc.description.issueSupplement 1
dc.description.publisherscopeInternational
dc.description.sponsorsThis work was supported by a Strategic Positioning Fund on Genetic Orphan Diseases (GODAFIT) and a Use-Inspired Basic Research (UIBR) grant from Agency for Science, Technology and Research (A*STAR) in Singapore to B.R. This work was also funded by the Max Planck Society (to A.M.) and the Deutsche Forschungsgemeinschaft (DFG, grant 418415292 to A. M.).
dc.description.volume31
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22321
dc.identifier.wos1050507001328
dc.keywordsBiochemistry and molecular biology
dc.keywordsGenetics and heredity
dc.languageen
dc.publisherSpringernature
dc.relation.grantnoStrategic Positioning Fund on Genetic Orphan Diseases (GODAFIT) from Agency for Science, Technology and Research (A*STAR) in Singapore
dc.relation.grantnoUse-Inspired Basic Research (UIBR) grant from Agency for Science, Technology and Research (A*STAR) in Singapore
dc.relation.grantnoMax Planck Society
dc.relation.grantnoDeutsche Forschungsgemeinschaft (DFG) [418415292]
dc.sourceEuropean Journal of Human Genetics
dc.subjectMedicine
dc.titleA progeroid syndrome with severe osteogenesis imperfecta segregates with an intronic TAPT1 homozygous variant that creates a knockout allele
dc.typeMeeting abstract
dspace.entity.typePublication
local.contributor.kuauthorNabavizadeh, Nasrinsadat
local.contributor.kuauthorBeillard, Nathalie Sonia Escande
local.contributor.kuauthorReversade, Bruno

Files

Collections

Publications without Fulltext