Open access
Aug 2026
A Novel FAM83H Truncation Mutation Disrupts Enamel Mineralization in Autosomal Dominant Hypocalcified Amelogenesis Imperfecta
These findings are consistent with the “presecretory pathogenesis” model for ADHCAI, wherein nuclear‐mislocalized truncated FAM83H may disrupt enamel mineralization partly through transcriptional suppression of matrix components.
Yue Wang, Hongfei Chen, Jiyong Lai et al.
· Clinical and Experimental De... · 0 citations