Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Willoughby, J., Fry, A.E. et al. (10 more authors) (2017) Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Journal of Medical Genetics. ISSN 0022-2593

Abstract

Metadata

Authors/Creators:
  • Balasubramanian, M. ORCID logo https://orcid.org/0000-0003-1488-3695
  • Willoughby, J.
  • Fry, A.E.
  • Weber, A.
  • Firth, H.V.
  • Deshpande, C.
  • Berg, J.N.
  • Chandler, K.
  • Metcalfe, K.A.
  • Lam, W.
  • Pilz, D.
  • Tomkins, S.
  • Study, D.D.D.
Copyright, Publisher and Additional Information: © The Authors. This is an author produced version of a paper subsequently published in Journal of Medical Genetics. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: ASXL3; intellectual disability; Marfanoid habitus; heterozygous; loss-of-function; Clinical genetics; Developmental; Molecular genetics
Dates:
  • Published (online): 18 January 2017
  • Accepted: 12 December 2016
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 01 Feb 2017 16:55
Last Modified: 21 Mar 2018 06:21
Published Version: https://doi.org/10.1136/jmedgenet-2016-104360
Status: Published online
Publisher: BMJ Publishing Group
Refereed: Yes
Identification Number: https://doi.org/10.1136/jmedgenet-2016-104360
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