Ade novoframeshift inHNRNPKcausing a Kabuki-like syndrome with nodular heterotopia-Reference-Cited by-同舟云学术

Ade novoframeshift inHNRNPKcausing a Kabuki-like syndrome with nodular heterotopia

Published:2016-04-01 Issue:3 Volume:90 Page:258-262
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Lange L.¹,Pagnamenta A. T.¹,Lise S.¹,Clasper S.²,Stewart H.³,Akha E. S.¹,Quaghebeur G.⁴,Knight S. J. L.¹,Keays D. A.⁵,Taylor J. C.¹,Kini U.³

Affiliation:

1. National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics; University of Oxford; Oxford UK

2. Oxford Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust; The Churchill Hospital; Oxford UK

3. Department of Clinical Genetics; Oxford University Hospitals NHS Foundation Trust; Oxford UK

4. Department of Neuroradiology; Oxford University Hospitals NHS Foundation Trust; Oxford UK

5. Institute of Molecular Pathology; Vienna Austria

Funder

National Institute for Health Research

Wellcome Trust

Rhodes Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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5. Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis;Pagnamenta;Hum Mol Genet,2015

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