Orru S., Papoulidis I., Siomou E., Papadimitriou D.T., Sotiriou S., Nikolaidis P., Eleftheriades M., Papanikolaou E., Thomaidis L., Manolakos E. (2019)
In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, ...