PAPSS2‐related brachyolmia : clinical and radiological phenotype in 18 new cases

Bownass, L., Abbs, S., Armstrong, R. et al. (24 more authors) (2019) PAPSS2‐related brachyolmia : clinical and radiological phenotype in 18 new cases. American Journal of Medical Genetics Part A, 179 (9). pp. 1884-1894. ISSN 1552-4825

Abstract

Metadata

Authors/Creators:
  • Bownass, L.
  • Abbs, S.
  • Armstrong, R.
  • Baujat, G.
  • Behzadi, G.
  • Berentsen, R.D.
  • Burren, C.
  • Calder, A.
  • Cormier‐Daire, V.
  • Newbury‐Ecob, R.
  • Foulds, N.
  • Juliusson, P.B.
  • Kant, S.G.
  • Lefroy, H.
  • Mehta, S.G.
  • Merckoll, E.
  • Michot, C.
  • Monsell, F.
  • Offiah, A.C. https://orcid.org/0000-0001-8991-5036
  • Richards, A.
  • Rosendahl, K.
  • Rustad, C.F.
  • Shears, D.
  • Tveten, K.
  • Wellesley, D.
  • Wordsworth, P.
  • Smithson, S.
Copyright, Publisher and Additional Information: © 2019 Wiley Periodicals. This is an author-produced version of a paper subsequently published in American Journal of Medical Genetics. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: brachyolmia; PAPSS2; platyspondyly
Dates:
  • Accepted: 11 June 2019
  • Published (online): 16 July 2019
  • Published: 8 August 2019
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: 21 Aug 2019 11:19
Last Modified: 22 Aug 2019 14:41
Status: Published
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.61282
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