A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Cuvertino, S, Hartill, V, Colyer, A et al. (32 more authors) (2020) A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genetics in Medicine, 22 (5). pp. 867-877. ISSN 1098-3600

Abstract

Metadata

Authors/Creators:
  • Cuvertino, S
  • Hartill, V
  • Colyer, A
  • Garner, T
  • Nair, N
  • Al-Gazali, L
  • Canham, N
  • Faundes, V
  • Flinter, F
  • Hertecant, J
  • Holder-Espinasse, M
  • Jackson, B
  • Lynch, SA
  • Nadat, F
  • Narasimhan, VM
  • Peckham, M https://orcid.org/0000-0002-3754-2028
  • Sellers, R
  • Seri, M
  • Montanari, F
  • Southgate, L
  • Squeo, GM
  • Trembath, R
  • van Heel, D
  • Venuto, S
  • Weisberg, D
  • Stals, K
  • Ellard, S
  • Genomics England Research Consortium,
  • Barton, A
  • Kimber, SJ
  • Sheridan, E
  • Merla, G
  • Stevens, A
  • Johnson, CA https://orcid.org/0000-0002-2979-8234
  • Banka, S
Copyright, Publisher and Additional Information: © The Author(s) 2020. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Keywords: multiple congenital anomaly; Kabuki syndrome; KMT2D; histone 3 lysine 4 methyltransferase; intrinsically disordered region
Dates:
  • Published: May 2020
  • Accepted: 24 December 2019
  • Published (online): 17 January 2020
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Biological Sciences (Leeds) > School of Molecular and Cellular Biology (Leeds) > Cell Biology (Leeds)
Funding Information:
FunderGrant number
British Heart FoundationFS/13/32/30069
Jules Thorn Charitable TrustNOT GIVEN
Wellcome TrustNot Known
BBSRC (Biotechnology & Biological Sciences Research Council)BB/M009114/1
Depositing User: Symplectic Publications
Date Deposited: 06 Jan 2020 10:08
Last Modified: 01 Jun 2020 14:04
Status: Published
Publisher: Springer Nature
Identification Number: https://doi.org/10.1038/s41436-019-0743-3

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