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

Item Type: Article
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 ORCID logo 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 ORCID logo 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:
  • Accepted: 24 December 2019
  • Published (online): 17 January 2020
  • Published: May 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:
Funder
Grant number
British Heart Foundation
FS/13/32/30069
Jules Thorn Charitable Trust
NOT GIVEN
Wellcome Trust
Not Known
BBSRC (Biotechnology & Biological Sciences Research Council)
BB/M009114/1
Depositing User: Symplectic Publications
Date Deposited: 06 Jan 2020 10:08
Last Modified: 25 Jun 2023 22:06
Status: Published
Publisher: Springer Nature
Identification Number: 10.1038/s41436-019-0743-3
Open Archives Initiative ID (OAI ID):

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