Collagen XVII

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
Ummey Hany, Christopher M Watson, Lu Liu, Claire E L Smith, Asmaa Harfoush, James A Poulter, Georgios Nikolopoulos, Richard Balmer, Catriona J Brown, Anesha Patel, Jenny Simmonds, Ruth Charlton, María Gabriela Acosta de Camargo, Helen D Rodd, Hussain Jafri, Agne Antanaviciute, Michelle Moffat, Maisoon Al-Jawad, Chris F Inglehearn, Alan J Mighell

Journal of Medical Genetics Apr 2024, 61 (4) 347-355; DOI: 10.1136/jmg-2023-109510

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Collagen XVII