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Article: P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature

TitleP588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature
Authors
Booth, KevinJangam, SharayuChui, Martin Man ChunTreat, KaylaGraziani, LorenzoSoldano, AlessiaWhite, KerryChristensen, CelanieLynnes, TyYamamoto, ShinyaKanca, OguzTsang, MandyLynch, SallyMullegama, SureniBaptista, JuliaIancu, DanielaJoss, ShelagMak, Christopher CYKwong, AnnaBellen, HugoConboy, ErinSanges, RemoWangler, Michael FChung, Brian Hon-YinVetrini, Francesco
Issue Date8-Mar-2024
PublisherElsevier
Citation
Genetics in Medicine Open, 2024, v. 2, n. S1, p. 13-13 How to Cite?
DOI: http://dx.doi.org/10.1016/j.gimo.2024.101494
Persistent Identifierhttp://hdl.handle.net/10722/341698
ISSN
2949-7744

 

DC FieldValueLanguage
dc.contributor.authorBooth, Kevin-
dc.contributor.authorJangam, Sharayu-
dc.contributor.authorChui, Martin Man Chun-
dc.contributor.authorTreat, Kayla-
dc.contributor.authorGraziani, Lorenzo-
dc.contributor.authorSoldano, Alessia-
dc.contributor.authorWhite, Kerry-
dc.contributor.authorChristensen, Celanie-
dc.contributor.authorLynnes, Ty-
dc.contributor.authorYamamoto, Shinya-
dc.contributor.authorKanca, Oguz-
dc.contributor.authorTsang, Mandy-
dc.contributor.authorLynch, Sally-
dc.contributor.authorMullegama, Sureni-
dc.contributor.authorBaptista, Julia-
dc.contributor.authorIancu, Daniela-
dc.contributor.authorJoss, Shelag-
dc.contributor.authorMak, Christopher CY-
dc.contributor.authorKwong, Anna-
dc.contributor.authorBellen, Hugo-
dc.contributor.authorConboy, Erin-
dc.contributor.authorSanges, Remo-
dc.contributor.authorWangler, Michael F-
dc.contributor.authorChung, Brian Hon-Yin-
dc.contributor.authorVetrini, Francesco-
dc.date.accessioned2024-03-20T06:58:23Z-
dc.date.available2024-03-20T06:58:23Z-
dc.date.issued2024-03-08-
dc.identifier.citationGenetics in Medicine Open, 2024, v. 2, n. S1, p. 13-13-
dc.identifier.issn2949-7744-
dc.identifier.urihttp://hdl.handle.net/10722/341698-
dc.languageeng-
dc.publisherElsevier-
dc.relation.ispartofGenetics in Medicine Open-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titleP588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature-
dc.typeArticle-
dc.identifier.doi10.1016/j.gimo.2024.101494-
dc.identifier.volume2-
dc.identifier.issueS1-
dc.identifier.spage13-
dc.identifier.epage13-

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