This case-control study was designed to evaluate the association of the polymorphism rs17563 in BMP4 gene with susceptibility of isolated human tooth agenesis in a Chinese Han population.
Here, we report the detection of a substitution mutation, A42P, within the prodomain of bone morphogenetic protein 4 (BMP4) in a small family with tooth agenesis and describe a functional alteration that may be responsible for the tooth phenotype.