Familial Bainbridge-Ropers syndrome: report of familial ASXL3 inheritance and a milder phenotype

Schirwani, S., Woods, E., Koolen, D.A. et al. (8 more authors) (2023) Familial Bainbridge-Ropers syndrome: report of familial ASXL3 inheritance and a milder phenotype. American Journal of Medical Genetics Part A, 191 (1). pp. 29-36. ISSN 1552-4825

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Item Type: Article
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© 2022 The Authors. This is an Open Access article distributed under the terms of the Creative Commons Attribution Licence (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Keywords: ASXL3; Bainbridge-Ropers syndrome; Developmental delay
Dates:
  • Published: January 2023
  • Published (online): 29 September 2022
  • Accepted: 8 September 2022
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: 17 Oct 2022 10:08
Last Modified: 25 Sep 2024 13:46
Status: Published
Publisher: Wiley
Refereed: Yes
Identification Number: 10.1002/ajmg.a.62981
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