Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review

Durkin, A., Albaba, S., Fry, A.E. et al. (19 more authors) (2020) Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. American Journal of Medical Genetics Part A, 182 (7). pp. 1637-1654. ISSN 1552-4825

Abstract

Metadata

Authors/Creators:
  • Durkin, A.
  • Albaba, S.
  • Fry, A.E.
  • Morton, J.E.
  • Douglas, A.
  • Beleza, A.
  • Williams, D.
  • Volker‐Touw, C.M.L.
  • Lynch, S.A.
  • Canham, N.
  • Clowes, V.
  • Straub, V.
  • Lachlan, K.
  • Gibbon, F.
  • El Gamal, M.
  • Varghese, V.
  • Parker, M.J.
  • Newbury‐Ecob, R.
  • Turnpenny, P.D.
  • Gardham, A.
  • Ghali, N.
  • Balasubramanian, M. ORCID logo https://orcid.org/0000-0003-1488-3695
Copyright, Publisher and Additional Information: © 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. https://creativecommons.org/licenses/by/4.0/
Keywords: DDD study; exome sequencing; HNRNPU; intellectual disability; seizures
Dates:
  • Accepted: 24 March 2020
  • Published (online): 22 April 2020
  • Published: 20 June 2020
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 11 May 2020 12:18
Last Modified: 28 Oct 2021 12:53
Status: Published
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.61599

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