CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi, Tatsuya; Dai, Jin; Cho, Tae-Joon; Sakazume, Satoru; Ikema, Masahide; Matsui, Yoshito; Baynam, Gareth; Nagai, Toshiro; Miyake, Noriko; Matsumoto, Naomichi; Ohashi, Hirofumi; Unger, Sheila; Superti-Furga, Andrea; Kim, Ok-Hwa; Nishimura, Gen; Ikegawa, Shiro; Journal of Medical Genetics, 2011, vol. 48, issue 1, p 32, ISSN 00222593. ISBN 14686244.

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