Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype - LI, NIU; DING, YU; YU, TINGTING; LI, JUAN; SHEN, YONGNIAN; WANG, XIUMIN; FU, QIHUA; SHEN, YIPING; HUANG, XIAODONG; WANG, JIAN (Experimental and therapeutic medicine, 2016)
Keywords: Analysis; Beckwith-Wiedemann syndrome; candidate genes; Care and treatment; Cell cycle; Children & youth; chromosomal microarrays analysis; Chromosomes; Deoxyribonucleic acid; DNA; DNA microarrays; Exome sequencing; Gene expression; Genomes; Metabolism; NMR; Nuclear magnetic resonance; Signal transduction; uniparental disomy; variants; whole exome sequencing; chromosomal microarrays analysis; variants; candidate genes; whole exome sequencing; uniparental disomy