De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Mirzaa, GM, Parry, DA, Fry, AE et al. (31 more authors) (2014) De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics, 46 (5). pp. 510-515. ISSN 1061-4036

Abstract

Metadata

Authors/Creators:
  • Mirzaa, GM
  • Parry, DA
  • Fry, AE
  • Giamanco, KA
  • Schwartzentruber, J
  • Vanstone, M
  • Logan, CV
  • Roberts, N
  • Johnson, CA
  • Singh, S
  • Kholmanskikh, SS
  • Adams, C
  • Hodge, RD
  • Hevner, RF
  • Bonthron, DT
  • Braun, KPJ
  • Faivre, L
  • Rivière, J-B
  • St-Onge, J
  • Gripp, KW
  • Mancini, GMS
  • Pang, K
  • Sweeney, E
  • Van Esch, H
  • Verbeek, N
  • Wieczorek, D
  • Steinraths, M
  • Majewski, J
  • FORGE Canada Consortium,
  • Boycott, KM
  • Pilz, DT
  • Ross, ME
  • Dobyns, WB
  • Sheridan, EG
Copyright, Publisher and Additional Information: © 2014 Nature America, Inc. This is an author produced version of a paper published in Nature Genetics. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: Paediatric neurological disorders
Dates:
  • Published: May 2014
  • Accepted: 12 March 2014
  • Published (online): 6 April 2014
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 07 Jun 2016 08:41
Last Modified: 18 Jan 2018 17:45
Published Version: http://dx.doi.org/10.1038/ng.2948
Status: Published
Publisher: Nature Publishing Group
Identification Number: https://doi.org/10.1038/ng.2948
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