换一批Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
第一作者：
S C Sreenath,Nagamani
第一单位：
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
作者：
医学主题词
1-烷基-2-乙酰甘油磷酸胆碱酯酶(1-Alkyl-2-acetylglycerophosphocholine Esterase);14-3-3蛋白质类(14-3-3 Proteins);畸形, 多发性(Abnormalities, Multiple);青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);染色体缺失(Chromosome Deletion);染色体图(Chromosome Mapping);染色体, 人, 17对(Chromosomes, Human, Pair 17);经典无脑回畸形和皮层下带状灰质异位症(Classical Lissencephalies and Subcortical Band Heterotopias);DNA(DNA);女(雌)性(Female);人类(Humans);男(雄)性(Male);微管相关蛋白质类(Microtubule-Associated Proteins);寡核苷酸序列分析(Oligonucleotide Array Sequence Analysis);聚合酶链反应(Polymerase Chain Reaction)
DOI
10.1136/jmg.2009.067637
PMID
19584063
发布时间
2009-12-02
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