Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
COL17A1杂合变异是牙釉质发育不全的常见病因。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109510
Hany, Ummey; Watson, Christopher M; Liu, Lu; Smith, Claire E L; Harfoush, Asmaa; Poulter, James A; Nikolopoulos, Georgios; Balmer, Richard; Brown, Catriona J; Patel, Anesha; Simmonds, Jenny; Charlton, Ruth; Acosta de Camargo, María Gabriela; Rodd, Helen D; Jafri, Hussain; Antanaviciute, Agne; Moffat, Michelle; Al-Jawad, Maisoon; Inglehearn, Chris F; Mighell, Alan J