M. Ikema

A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia

A. Takahashi, N. Matsumoto, Hae-Ryong Song, 2011, Journal of Human Genetics.

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

N. Matsumoto, G. Baynam, T. Cho, 2010, Journal of Medical Genetics.