CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi T; Dai J; Cho TJ; Sakazume S; Ikema M; Matsui Y; Baynam G; Nagai T; Miyake N; Matsumoto N; Ohashi H; Unger S; Superti-Furga A; Kim OH; Nishimura G; Ikegawa S; Journal Of Medical Genetics, 2011, vol. 48, issue 1, p 32, ISSN 14686244. ISBN 14686244.

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