Twenty-four patients with rare and novel C2CD3 variants showed diverse dental defects. Mouse and avian models demonstrated context-dependent changes in Shh signaling and jaw/tooth development.
Key findings
- C2CD3 variants were linked to dental anomalies
- Animal models demonstrated altered Shh signaling
- The findings may inform evolutionary tooth-loss mechanisms
Why this matters globally
The study links human developmental disease mechanisms with vertebrate dental evolution.
Thai researcher contribution
A Chiang Mai University researcher served as corresponding author, with contributors from multiple Thai institutions.
Limitations to consider
The evolutionary implications are inferred from conserved phenotypes and should be interpreted cautiously.