Nguyen-Minh, Sylvie
Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy. [electronic resource]
- Gene Jul 2013
- 92-8 p. digital
Publication Type: Journal Article
1879-0038
10.1016/j.gene.2013.03.078 doi
Abnormalities, Multiple--genetics
Cells, Cultured
Child
Chromosome Deletion
Chromosome Duplication
Chromosome Mapping
Chromosomes, Human, Pair 18--genetics
Comparative Genomic Hybridization
Humans
Intellectual Disability--genetics
Karyotyping
Leukocytes, Mononuclear--pathology
Male
Microcephaly--genetics
Phenotype