Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Lord, H., Levesque, S. et al. (14 more authors) (2016) Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Journal of Medical Genetics. ISSN 0022-2593

Abstract

Metadata

Authors/Creators:
  • Balasubramanian, M. ORCID logo https://orcid.org/0000-0003-1488-3695
  • Lord, H.
  • Levesque, S.
  • Guturu, H.
  • Thuriot, F.
  • Sillon, G.
  • Wenger, A.M.
  • Sureka, D.L.
  • Lester, T.
  • Johnson, D.S.
  • Bowen, J.
  • Calhoun, A.R.
  • Viskochil, D.H.
  • DDD Study
  • Bejerano, G.
  • Bernstein, J.A.
  • Chitayat, D.
Copyright, Publisher and Additional Information: © 2016 BMJ Publishing Group. 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: Bronchomalacia; Chitayat syndrome; Craniosynostosis; ERF; Hyperphalangism
Dates:
  • Published: 13 October 2016
  • Accepted: 21 September 2016
  • Published (online): 13 October 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: 19 Oct 2016 08:57
Last Modified: 24 Mar 2018 11:43
Published Version: http://dx.doi.org/10.1136/jmedgenet-2016-104143
Status: Published
Publisher: BMJ Publishing Group
Refereed: Yes
Identification Number: https://doi.org/10.1136/jmedgenet-2016-104143
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