Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

Radley, J.A. orcid.org/0000-0002-0776-0091, O'Sullivan, R.B.G., Turton, S.E. et al. (14 more authors) (2019) Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. Clinical Genetics. ISSN 0009-9163

Abstract

Metadata

Authors/Creators:
  • Radley, J.A. https://orcid.org/0000-0002-0776-0091
  • O'Sullivan, R.B.G.
  • Turton, S.E.
  • Cox, H.
  • Vogt, J.
  • Morton, J.
  • Jones, E.
  • Smithson, S.
  • Lachlan, K.
  • Rankin, J.
  • Clayton-Smith, J.
  • Willoughby, J.
  • Elmslie, F.F.
  • Sansbury, F.H.
  • Cooper, N.
  • Study, D.D.D.
  • Balasubramanian, M.
Copyright, Publisher and Additional Information: © 2019 Wiley. This is an author produced version of a paper subsequently published in Clinical Genetics. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: IQSEC2; epilepsy; intellectual disability; secondary microcephaly; twin discordance
Dates:
  • Accepted: 11 January 2019
  • Published (online): 21 January 2019
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 04 Feb 2019 11:39
Last Modified: 21 Jan 2020 01:39
Published Version: https://doi.org/10.1111/cge.13507
Status: Published online
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1111/cge.13507
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