De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
Publication year
2019Source
American Journal of Human Genetics, 105, 2, (2019), pp. 283-301ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Journal title
American Journal of Human Genetics
Volume
vol. 105
Issue
iss. 2
Page start
p. 283
Page end
p. 301
Subject
All institutes and research themes of the Radboud University Medical Center; Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical NeuroscienceThis item appears in the following Collection(s)
- Academic publications [233356]
- Electronic publications [116732]
- Faculty of Medical Sciences [89145]
- Open Access publications [83857]
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