A novel missense mutation of LRP6 identified by whole-exome sequencing in a Chinese family with non-syndromic tooth agenesis.
Huijuan WangYi LiuYafei ZhengXiaoxue ZhaoShiyi LinQin ZhangXiang-Yu ZhangPublished in: Orthodontics & craniofacial research (2020)
The identification of the mutation in the LRP6 gene and autosomal dominant inheritance with TA in the generations is consistent with the mutation being responsible for TA in the family, and furthers the association of LRP6 with nonsyndromic TA.