Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

Autor: Di Donato, N1, Rump, A1, Koenig, R2, Der Kaloustian, V M3, Halal, F4, Sonntag, K1, Krause, C1, Hackmann, K1, Hahn, G5, Schrock, E1, Verloes, A6
Zdroj: European Journal of Human Genetics. Feb2014, Vol. 22 Issue 2, p179-183. 5p.
Databáze: Academic Search Ultimate