Siomou, E. Manolakos, E. Petersen, M. Thomaidis, L. Gyftodimou, Y. Orru, S. Papoulidis, I., A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2, European Journal of Medical Genetics, (55), 641-645, 2012, 1769-7212