Cerebrofaciothoracic dysplasia: four new patients with a recurrent TMCO1 pathogenic variant.

Yates, T.M., Ng, O.-H., Offiah, A.C. orcid.org/0000-0001-8991-5036 et al. (4 more authors) (2018) Cerebrofaciothoracic dysplasia: four new patients with a recurrent TMCO1 pathogenic variant. American Journal of Medical Genetics Part A. ISSN 1552-4825

Abstract

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Copyright, Publisher and Additional Information: © 2018, Wiley. This is an author produced version of a paper subsequently published in the American Journal of Medical Genetics Part A. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: Cerebrofaciothoracic dysplasia; Intellectual disability; TMCO1
Dates:
  • Accepted: 14 October 2018
  • Published (online): 17 December 2018
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 07 Jan 2019 13:21
Last Modified: 07 Jan 2019 13:22
Published Version: https://doi.org/10.1002/ajmg.a.60678
Status: Published online
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.60678
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Embargoed until: 17 December 2019

Filename: TMCO1 manuscript R2.pdf

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