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Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities

dc.contributor.authorIJspeert, Hanna
dc.contributor.authorWarris, Adilia
dc.contributor.authorvan der Flier, Michiel
dc.contributor.authorReisli, Ismail
dc.contributor.authorKeles, Sevgi
dc.contributor.authorChishimba, Sandra
dc.contributor.authorvan Dongen, Jacques J M
dc.contributor.authorvan Gent, Dik C
dc.contributor.authorvan der Burg, Mirjam
dc.date.accessioned2018-03-13T11:53:21Z
dc.date.available2018-03-13T11:53:21Z
dc.date.issued2013-12
dc.identifier.citationIJspeert , H , Warris , A , van der Flier , M , Reisli , I , Keles , S , Chishimba , S , van Dongen , J J M , van Gent , D C & van der Burg , M 2013 , ' Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities ' , Human Mutation , vol. 34 , no. 12 , pp. 1611-1614 . https://doi.org/10.1002/humu.22436en
dc.identifier.issn1059-7794
dc.identifier.otherPURE: 108693346
dc.identifier.otherPURE UUID: d034a6db-d5a3-4449-b7e1-cb4fe7040be5
dc.identifier.otherPubMed: 24027040
dc.identifier.otherPubMedCentral: PMC3910166
dc.identifier.otherScopus: 84887607453
dc.identifier.urihttp://hdl.handle.net/2164/10171
dc.descriptionAcknowledgments The authors thank S. de Bruin-Versteeg for making the figures and M.J.Moorhouse for critically reading the manuscript. Disclosure statement: The authors declare no conflict of interest. Contract grant sponsor: Sophia Kinderziekenhuis Fonds (grant 589 and Vidi grant 91712323).en
dc.format.extent4
dc.language.isoeng
dc.relation.ispartofHuman Mutationen
dc.rights© 2013 The Authors. *Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. https://creativecommons.org/licenses/by-nc-nd/3.0/en
dc.subjectLIG4en
dc.subjectimmunodeficiencyen
dc.subjectprimordial dwarfismen
dc.subjectnon-homologous end joiningen
dc.subjectNHEJen
dc.subjectR Medicine (General)en
dc.subject.lccR1en
dc.titleClinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalitiesen
dc.typeJournal articleen
dc.contributor.institutionUniversity of Aberdeen.Institute of Medical Sciencesen
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.description.statusPeer revieweden
dc.description.versionPublisher PDFen
dc.identifier.doihttps://doi.org/10.1002/humu.22436
dc.identifier.vol34en
dc.identifier.iss12en


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