A small and active ring X chromosome in a female with features of Kabuki syndrome

Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML. Am J Med Genet A. 2008 Nov 1;146A(21):2816-21