换一批
换一批Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.
作者：
主题词
畸形, 多发性(Abnormalities, Multiple);成年人(Adult);细胞周期蛋白质类(Cell Cycle Proteins);儿童(Child);染色体缺失(Chromosome Deletion);染色体, 人, 15对(Chromosomes, Human, Pair 15);女(雌)性(Female);纯合子(Homozygote);人类(Humans);Kruppel样转录因子类(Kruppel-Like Transcription Factors);男(雄)性(Male);肌张力过低(Muscle Hypotonia);表型(Phenotype);受体, 烟碱(Receptors, Nicotinic);阻遏蛋白质类(Repressor Proteins);视网膜疾病(Retinal Diseases);发作(Seizures);TRPM阳离子通道(TRPM Cation Channels)
DOI
10.1016/j.ejmg.2011.04.004
PMID
21596161
发布时间
2013-11-21
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