TY - GEN AU - Nguyen-Minh,Sylvie AU - Drossel,Katrin AU - Horn,Denise AU - Rost,Imma AU - Spors,Birgit AU - Kaindl,Angela M TI - Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy SN - 1879-0038 PY - 2013///0711 KW - Abnormalities, Multiple KW - genetics KW - Cells, Cultured KW - Child KW - Chromosome Deletion KW - Chromosome Duplication KW - Chromosome Mapping KW - Chromosomes, Human, Pair 18 KW - Comparative Genomic Hybridization KW - Humans KW - Intellectual Disability KW - Karyotyping KW - Leukocytes, Mononuclear KW - pathology KW - Male KW - Microcephaly KW - Phenotype N1 - Publication Type: Journal Article UR - https://doi.org/10.1016/j.gene.2013.03.078 ER -