Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta

Marshall, C.J., Arundel, P., Mushtaq, T. et al. (4 more authors) (2016) Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta. American Journal of Medical Genetics Part A, 170 (12). pp. 3303-3307. ISSN 1552-4825

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Copyright, Publisher and Additional Information: © 2016 Wiley Periodicals, Inc. This is an author produced version of a paper subsequently published in American Journal of Medical Genetics Part A. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: C-propeptide cleavage site; COL1A1; antenatal presentation; lethal skeletal dysplasia; osteogenesis imperfecta
Dates:
  • Published (online): 23 August 2016
  • Accepted: 4 August 2016
  • Published: 1 December 2016
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine (Sheffield) > Division of Genomic Medicine (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 26 Sep 2016 09:40
Last Modified: 24 Aug 2017 03:29
Published Version: http://dx.doi.org/10.1002/ajmg.a.37943
Status: Published
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.37943
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