A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Giunta, C., Baumann, M., Fauth, C. et al. (27 more authors) (2017) A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine. ISSN 1098-3600

Abstract

Metadata

Authors/Creators:
  • Giunta, C.
  • Baumann, M.
  • Fauth, C.
  • Lindert, U.
  • Abdalla, E.M.
  • Brady, A.F.
  • Collins, J.
  • Dastgir, J.
  • Donkervoort, S.
  • Ghali, N.
  • Johnson, D.S.
  • Kariminejad, A.
  • Koch, J.
  • Kraenzlin, M.
  • Lahiri, N.
  • Lozic, B.
  • Manzur, A.Y.
  • Morton, J.E.V.
  • Pilch, J.
  • Pollitt, R.C. https://orcid.org/0000-0002-8864-397X
  • Schreiber, G.
  • Shannon, N.L.
  • Sobey, G.
  • Vandersteen, A.
  • van Dijk, F.S.
  • Witsch-Baumgartner, M.
  • Zschocke, J.
  • Pope, F.M.
  • Bönnemann, C.G.
  • Rohrbach, M.
Copyright, Publisher and Additional Information: This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/ by-nc-sa/4.0/ © The Author(s) 2017
Keywords: diagnostic criteria; FKBP14; FKBP22; kyphoscoliotic Ehlers-Danlos syndrome; mutations
Dates:
  • Published: 15 June 2017
  • Accepted: 5 April 2017
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine (Sheffield) > Division of Genomic Medicine (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 19 Jul 2017 10:38
Last Modified: 19 Jul 2017 10:38
Published Version: https://doi.org/10.1038/gim.2017.70
Status: Published online
Publisher: Lippincott, Williams & Wilkins
Refereed: Yes
Identification Number: https://doi.org/10.1038/gim.2017.70
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Licence: CC-BY-NC-SA 4.0

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