SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements - Uehara, Daniela Tiaki; Hayashi, Shin; Okamoto, Nobuhiko; Mizuno, Seiji; Chinen, Yasutsugu; Kosaki, Rika; Kosho, Tomoki; Kurosawa, Kenji; Matsumoto, Hiroshi; Mitsubuchi, Hiroshi; Numabe, Hironao; Saitoh, Shinji; et al. (Journal of human genetics, 2016)
Keywords: Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Adaptor Proteins, Signal Transducing - genetics; Chromosome Aberrations; Comparative Genomic Hybridization; DNA Copy Number Variations - genetics; Female; Genome, Human; Genomics; Humans; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Loss of Heterozygosity - genetics; Male; Membrane Proteins - genetics; Phenotype; Polymorphism, Single Nucleotide