A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly

Marshall, C., Lopez, J., Crookes, L. et al. (2 more authors) (2016) A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. Gene, 595 (1). pp. 49-52. ISSN 0378-1119

Abstract

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Authors/Creators:
Copyright, Publisher and Additional Information: © 2016 Elsevier. This is an author produced version of a paper subsequently published in Gene. Uploaded in accordance with the publisher's self-archiving policy. Article available under the terms of the CC-BY-NC-ND licence (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Keywords: Autosomal recessive; Hydranencephaly; Lethal presentation; Osteogenesis imperfecta
Dates:
  • Published: 20 December 2016
  • Published (online): 25 September 2016
  • Accepted: 23 September 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)
Funding Information:
FunderGrant number
THE CHILDRENS HOSPITAL CHARITYUNSPECIFIED
Depositing User: Symplectic Sheffield
Date Deposited: 05 Oct 2016 10:15
Last Modified: 28 Sep 2017 13:06
Published Version: http://dx.doi.org/10.1016/j.gene.2016.09.035
Status: Published
Publisher: Elsevier
Refereed: Yes
Identification Number: https://doi.org/10.1016/j.gene.2016.09.035
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