Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study

Thornley, P., Bishop, N. orcid.org/0000-0001-7263-8546, Baker, D. et al. (10 more authors) (2022) Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study. Archives of Disease in Childhood, 107 (5). pp. 486-490. ISSN 0003-9888

Abstract

Metadata

Authors/Creators:
Copyright, Publisher and Additional Information: © Author(s) (or their employer(s)) 2021. No commercial re-use.
Keywords: paediatrics; genetics; epidemiology; child health
Dates:
  • Accepted: 21 October 2021
  • Published (online): 8 November 2021
  • Published: 20 April 2022
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: 19 Jan 2022 17:50
Last Modified: 07 Jul 2022 15:46
Status: Published
Publisher: BMJ
Refereed: Yes
Identification Number: https://doi.org/10.1136/archdischild-2021-322911
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