Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Roscioli, T, Kamsteeg, E-J, Buysse, K et al. (32 more authors) (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nature Genetics, 44 (5). pp. 581-585. ISSN 1061-4036

Abstract

Metadata

Authors/Creators:
  • Roscioli, T
  • Kamsteeg, E-J
  • Buysse, K
  • Maystadt, I
  • van Reeuwijk, J
  • van den Elzen, C
  • van Beusekom, E
  • Riemersma, M
  • Pfundt, R
  • Vissers, LELM
  • Schraders, M
  • Altunoglu, U
  • Buckley, MF
  • Brunner, HG
  • Grisart, B
  • Zhou, H
  • Veltman, JA
  • Gilissen, C
  • Mancini, GMS
  • Delrée, P
  • Willemsen, MA
  • Ramadža, DP
  • Chitayat, D
  • Bennett, C
  • Sheridan, E
  • Peeters, EAJ
  • Tan-Sindhunata, GMB
  • de Die-Smulders, CE
  • Devriendt, K
  • Kayserili, H
  • El-Hashash, OAE-F
  • Stemple, DL
  • Lefeber, DJ
  • Lin, Y-Y
  • van Bokhoven, H
Keywords: Disease genetics; Diseases of the nervous system
Dates:
  • Published: May 2012
  • Accepted: 21 March 2012
  • Published (online): 22 April 2012
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)
Depositing User: Symplectic Publications
Date Deposited: 25 Aug 2016 13:50
Last Modified: 04 Nov 2016 07:00
Published Version: https://dx.doi.org/10.1038/ng.2253
Status: Published
Publisher: Nature Publishing Group
Identification Number: https://doi.org/10.1038/ng.2253
Related URLs:

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