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



  • 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
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Keywords: multiple congenital anomaly; Kabuki syndrome; KMT2D; histone 3 lysine 4 methyltransferase; intrinsically disordered region
  • 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:
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: 25 Jun 2023 22:06
Status: Published
Publisher: Springer Nature
Identification Number: https://doi.org/10.1038/s41436-019-0743-3