A novel PITX2 mutation in non-syndromic orodental anomalies.

N IntarakT TheerapanonC IttiwutKanya Suphapeetiporn Thantrira PorntaveetusV Shotelersuk

Published in: Oral diseases (2018)

This study for the first time demonstrates that the PITX2 mutation could lead to non-syndromic orodental anomalies in humans. We propose that the specific location in the C-terminal domain of PITX2 is exclusively necessary for tooth development.

Keyphrases

intellectual disability