Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review

Sabanathan, S., Gulhane, D., Mankad, K. et al. (10 more authors) (2022) Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review. Neuromuscular Disorders. ISSN 0960-8966

Abstract

Metadata

Authors/Creators:
  • Sabanathan, S.
  • Gulhane, D.
  • Mankad, K.
  • Davison, J.
  • Ong, M.T.
  • Phadke, R.
  • Robinson, R.
  • Spiller, M.
  • Wakeling, E.
  • Ramdas, S.
  • Brady, A.F.
  • Balasubramanian, M. ORCID logo https://orcid.org/0000-0003-1488-3695
  • Munot, P.
Copyright, Publisher and Additional Information: © 2022 Elsevier B.V. This is an author produced version of a paper subsequently published in Neuromuscular Disorders. Uploaded in accordance with the publisher's self-archiving policy. Article available under the terms of the CC-BY-NC-ND licence (https://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: TBCK; neurodevelopmental disorder; hypotonia
Dates:
  • Accepted: 19 October 2022
  • Published (online): 25 October 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: 11 Nov 2022 17:36
Last Modified: 14 Nov 2022 12:47
Status: Published online
Publisher: Elsevier BV
Refereed: Yes
Identification Number: https://doi.org/10.1016/j.nmd.2022.10.004

Download

Accepted Version


Embargoed until: 25 October 2023

Filename: TBCK revision 1_10_22_clean.pdf

Licence: CC-BY-NC-ND 4.0

Request a copy

file not available

Export

Statistics