换一批
换一批Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
作者：
关键词
22q11.2 MicroduplicationADHDArray-CGHArray-comparative genomic hybridizationAttention Deficit Hyperactivity DisorderCASKCESCNVsCalcium/Calmodulin-dependent Serine protein KinaseCat-Eye SyndromeCopy Number VariationsDGCRDGVDNA Topoisomerase III beta geneDatabase of Genomic VariantsDi George Critical RegionFMR1Fragile X Mental Retardation 1LCRLow Copy RepeatsMED12MacrocephalyMediator complex subunit 12NAHRNSD1Non Allelic Homologous RecombinationNuclear receptor binding SET Domain protein 1OvergrowthPGCPPlasma Glutamate CarboxypeptidaseTDRTOP3BTypically Deleted RegionUPF3 regulator of nonsense transcripts homolog BUPF3B
主题词
畸形, 多发性(Abnormalities, Multiple);青少年(Adolescent);成年人(Adult);染色体重复(Chromosome Duplication);染色体, 人, 22对(Chromosomes, Human, Pair 22);染色体, 人, 8对(Chromosomes, Human, Pair 8);DiGeorge综合征(DiGeorge Syndrome);女(雌)性(Female);生长障碍(Growth Disorders);人类(Humans);男(雄)性(Male);三体性(Trisomy)
DOI
10.1016/j.gene.2013.11.051
PMID
24315824
发布时间
2014-01-13
- 浏览182
Gene
213-6页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
