A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.

Rui-Qi BaiWen-Bin HeQian PengSu-Hui ShenQian-Qian YuJuan DuYue-Qiu TanYue-Hong WangBin-Jie Liu

Published in: Molecular genetics & genomic medicine (2022)

Our findings expand the variant spectrum for FAM83H and the phenotypic spectrum for FAM83H-associated AI and suggest that FAM83H-mediated AI exhibits incomplete penetrance.

Keyphrases

artificial intelligence
early onset
machine learning
deep learning