Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (17 more authors) (2024) Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of Medical Genetics, 61 (4). pp. 347-355. ISSN 0022-2593

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Item Type: Article
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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made.

Keywords: COL17A1; Collagen XVII; amelogenesis imperfecta; junctional epidermolysis bullosa
Dates:
  • Published: 21 March 2024
  • Published (online): 18 November 2023
  • Accepted: 17 October 2023
  • Submitted: 13 July 2023
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Clinical Dentistry (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 28 Nov 2023 10:01
Last Modified: 01 Nov 2024 12:32
Status: Published
Publisher: BMJ
Refereed: Yes
Identification Number: 10.1136/jmg-2023-109510
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