Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

Elpidorou, M, Best, S, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (4 more authors) (2020) Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality. Journal of Medical Genetics. ISSN 0022-2593

Abstract

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Authors/Creators:
Copyright, Publisher and Additional Information: © author(s) (or their employer(s)) 2020. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.
Dates:
  • Accepted: 9 May 2020
  • Published (online): 22 June 2020
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Institute of Rheumatology & Musculoskeletal Medicine (LIRMM) (Leeds) > Inflammatory Arthritis (Leeds)
Funding Information:
FunderGrant number
British Heart FoundationFS/13/32/30069
Jules Thorn Charitable TrustNOT GIVEN
Depositing User: Symplectic Publications
Date Deposited: 12 May 2020 13:36
Last Modified: 07 Aug 2020 12:19
Status: Published online
Publisher: BMJ Publishing Group
Identification Number: https://doi.org/10.1136/jmedgenet-2020-106873

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