Expanding the phenotype of SPARC-related osteogenesis imperfecta : clinical findings in two patients with pathogenic variants in SPARC and literature review

Durkin, A., DeVile, C., Arundel, P. et al. (11 more authors) (2021) Expanding the phenotype of SPARC-related osteogenesis imperfecta : clinical findings in two patients with pathogenic variants in SPARC and literature review. Journal of Medical Genetics, 59 (8). pp. 810-816. ISSN 0022-2593

Abstract

Metadata

Item Type: Article
Authors/Creators:
Copyright, Publisher and Additional Information:

© 2021 Author(s) (or their employer(s)). This is an author-produced version of a paper subsequently published in Journal of Medical Genetics. Available under the CC BY-NC license (https://creativecommons.org/licenses/by-nc/4.0/).

Keywords: SPARC; Osteogenesis Imperfecta; scoliosis; myopathy
Dates:
  • Published: 21 July 2021
  • Published (online): 30 August 2021
  • Accepted: 1 August 2021
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Sheffield Teaching Hospitals
Depositing User: Symplectic Sheffield
Date Deposited: 19 Jan 2022 14:50
Last Modified: 25 Jun 2024 07:48
Status: Published
Publisher: BMJ Publishing Group
Refereed: Yes
Identification Number: 10.1136/jmedgenet-2021-107942
Related URLs:
Open Archives Initiative ID (OAI ID):

Export

Statistics