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. 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. See: https://creativecommons.org/licenses/by/4.0/.

Keywords: Collagen XVII; amelogenesis imperfecta; junctional epidermolysis bullosa
Dates:
  • Published: April 2024
  • Published (online): 18 November 2023
  • Accepted: 17 October 2023
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Leeds Institute of Medical Research (LIMR) > Division of Molecular Medicine
The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Dentistry (Leeds) > Oral Surgery (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Dentistry (Leeds) > Oral Biology (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Leeds Institute of Medical Research (LIMR)
The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Leeds Institute of Medical Research (LIMR) > Division of Pathology and Data Analytics
Depositing User: Symplectic Publications
Date Deposited: 08 Jan 2024 15:36
Last Modified: 09 Dec 2024 15:19
Status: Published
Publisher: BMJ
Identification Number: 10.1136/jmg-2023-109510
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