An expansion of the phenotype in individuals with SYNCRIP-related neurodevelopmental disorder

Shafiq, T., Feng, J.L., Phillips, L. et al. (28 more authors) (2024) An expansion of the phenotype in individuals with SYNCRIP-related neurodevelopmental disorder. Rare, 2. 100052. ISSN 2950-0087

Abstract

Metadata

Item Type: Article
Authors/Creators:
  • Shafiq, T.
  • Feng, J.L.
  • Phillips, L.
  • Murias, K.
  • Ferguson, M.
  • Baranano, K.
  • Acchione, A.
  • Kipkemoi, P.
  • Kipkoech, C.
  • Chepkemoi, E.
  • Abubakar, A.
  • Newton, C.
  • van der Merwe, C.
  • O’Heir, E.
  • Galvin, A.
  • Garcia, A.G.
  • D’Souza, A.
  • Stefanich, J.
  • Shillington, A.
  • Tuttle, A.
  • Torti, E.
  • Zhu, E.
  • Morsink, M.A.J.
  • Lebayle, E.
  • Corneo, B.
  • Ricupero, C.L.
  • Au, P.Y.B.
  • Kline, A.D.
  • Balasubramanian, M. ORCID logo https://orcid.org/0000-0003-1488-3695
  • Bain, J.
  • Gillentine, M.A.
Copyright, Publisher and Additional Information:

© 2024 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: SYNCRIP; neurodevelopmental disorders; genetic disorders; HNRNPQ; HNRNP-related neurodevelopmental disorders; SYNCRIP-related neurodevelopmental disorder
Dates:
  • Published: 5 December 2024
  • Published (online): 27 November 2024
  • Accepted: 19 November 2024
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health
Funding Information:
Funder
Grant number
HNRNP FAMILY FOUNDATION
UNSPECIFIED
Depositing User: Symplectic Sheffield
Date Deposited: 10 Dec 2024 15:04
Last Modified: 10 Dec 2024 15:04
Published Version: https://doi.org/10.1016/j.rare.2024.100052
Status: Published
Publisher: Elsevier BV
Refereed: Yes
Identification Number: 10.1016/j.rare.2024.100052
Open Archives Initiative ID (OAI ID):

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