SMAD6 variants in craniosynostosis : genotype and phenotype evaluation

Calpena, E., Cuellar, A., Bala, K. et al. (20 more authors) (2020) SMAD6 variants in craniosynostosis : genotype and phenotype evaluation. Genetics in Medicine, 22 (9). pp. 1498-1506. ISSN 1098-3600



  • Calpena, E.
  • Cuellar, A.
  • Bala, K.
  • Swagemakers, S.M.A.
  • Koelling, N.
  • McGowan, S.J.
  • Phipps, J.M.
  • Balasubramanian, M. ORCID logo
  • Cunningham, M.L.
  • Douzgou, S.
  • Lattanzi, W.
  • Morton, J.E.V.
  • Shears, D.
  • Weber, A.
  • Wilson, L.C.
  • Lord, H.
  • Lester, T.
  • Johnson, D.
  • Wall, S.A.
  • Twigg, S.R.F.
  • Mathijssen, I.M.J.
  • Boyadjiev, S.A.
  • Wilkie, A.O.M.
Copyright, Publisher and Additional Information: © 2020 The Authors. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit
Keywords: BMP2; digenic inheritance; metopic synostosis; protein instability; two-locus
  • Accepted: 21 April 2020
  • Published (online): 5 June 2020
  • Published: September 2020
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 16 Jun 2020 10:20
Last Modified: 28 Oct 2021 13:52
Status: Published
Publisher: Springer Nature [academic journals on]
Refereed: Yes
Identification Number:
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