Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1.

Jewell, R., Sarkar, A., Jones, R. et al. (4 more authors) (2017) Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1. Clinical Dysmorphology. ISSN 0962-8827

Abstract

Metadata

Authors/Creators:
  • Jewell, R.
  • Sarkar, A.
  • Jones, R.
  • Wilkinson, A.
  • Martin, K.
  • Arundel, P.
  • Balasubramanian, M.
Copyright, Publisher and Additional Information: © 2017 Lippincott, Williams & Wilkins. This is an author produced version of a paper subsequently published in Clinical Dysmorphology. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: Osteogenesis imperfecta; atypical; COL1A1 deletion; Array comparative genomic hydridization (aCGH)
Dates:
  • Published: 30 May 2017
  • Accepted: 1 May 2017
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: 13 Jun 2017 15:19
Last Modified: 30 May 2018 00:39
Published Version: http://doi.org/10.1097/MCD.0000000000000186
Status: Published
Publisher: Lippincott, Williams & Wilkins
Refereed: Yes
Identification Number: https://doi.org/10.1097/MCD.0000000000000186
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