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

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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.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.date.accessioned2018-03-13T11:53:21Z
dc.date.available2018-03-13T11:53:21Z
dc.date.issued2013-12
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.description.statusPeer revieweden
dc.format.extent4
dc.format.extent382260
dc.identifier108693346
dc.identifierd034a6db-d5a3-4449-b7e1-cb4fe7040be5
dc.identifier24027040
dc.identifier84887607453
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.doi10.1002/humu.22436
dc.identifier.iss12en
dc.identifier.issn1059-7794
dc.identifier.otherPubMedCentral: PMC3910166
dc.identifier.urihttp://hdl.handle.net/2164/10171
dc.identifier.vol34en
dc.language.isoeng
dc.relation.ispartofHuman Mutationen
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

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