Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Schirwani, S, Albaba, S, Carere, DA et al. (52 more authors) (2021) Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. American Journal of Medical Genetics Part A. ISSN 1552-4825

Abstract

Metadata

Authors/Creators:
  • Schirwani, S
  • Albaba, S
  • Carere, DA
  • Guillen Sacoto, MJ
  • Milan Zamora, F
  • Si, Y
  • Rabin, R
  • Pappas, J
  • Renaud, DL
  • Hauser, N
  • Reid, E
  • Blanchet, P
  • Foulds, N
  • Dixit, A
  • Fisher, R
  • Armstrong, R
  • Isidor, B
  • Cogne, B
  • Schrier Vergano, S
  • Demirdas, S
  • Dykzeul, N
  • Cohen, JS
  • Grand, K
  • Morel, D
  • Slavotinek, A
  • Albassam, HF
  • Naik, S
  • Dean, J
  • Ragge, N
  • Cinzia, C
  • Tedesco, MG
  • Harrison, RE
  • Bouman, A
  • Palen, E
  • Challman, TD
  • Willemsen, MH
  • Vogt, J
  • Cunniff, C
  • Bergstrom, K
  • Walia, JS
  • Bruel, A-L
  • Kini, U
  • Alkuraya, FS
  • Slegesky, V
  • Meeks, N
  • Girotto, P
  • Johnson, D
  • DDD Study
  • Newbury-Ecob, R
  • Ockeloen, CW
  • Prontera, P
  • Lynch, SA
  • Li, D
  • Graham, JM
  • Balasubramanian, M ORCID logo https://orcid.org/0000-0003-1488-3695
Copyright, Publisher and Additional Information: © 2021 Wiley Periodicals LLC. This is an author-produced version of a paper subsequently published in American Journal of Medical Genetics Part A. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: ASXL3; ASXL3-related syndrome; BRPS; Bainbridge-Ropers syndrome; intellectual disability; speech impairment
Dates:
  • Accepted: 8 July 2021
  • Published (online): 26 August 2021
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield)
The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 03 Sep 2021 09:03
Last Modified: 03 Sep 2021 09:03
Status: Published online
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.62465
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