Article
PAX9 mutations and genetic synergism in familial tooth agenesis.
Annals of the New York Academy of Sciences - 1 Jun 2023
Chu Kuan-Yu, Wang Yin-Lin, Chen Jung-Tsu, Lin Chia-Hui, Yao Chung-Chen Jane, Chen Yi-Jane, Chen Huan-Wen, Simmer James P, Hu Jan C-C, Wang Shih-Kai
Abstract excerpt
Familial tooth agenesis (FTA) is one of the most common craniofacial anomalies in humans. Loss-of-function mutations in PAX9 and WNT10A have been known to cause FTA with various expressivity. In this study, we identified five FTA kindreds with novel PAX9 disease-causing mutations: p.(Glu7Lys), p.(Val83Leu), p.(Pro118Ser), p.(Ser197Argfs*23), and c.771+4A>G. Concomitant PAX9 and WNT10A pathogenic variants found in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.