换一批
换一批Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
作者：
主题词
动物(Animals);碱性螺旋-环-螺旋亮氨酸拉链转录因子类(Basic Helix-Loop-Helix Leucine Zipper Transcription Factors);儿童(Child);细胞遗传学分析(Cytogenetic Analysis);DNA结合蛋白质类(DNA-Binding Proteins);面部(Face);女(雌)性(Female);单倍型(Haplotypes);人类(Humans);通气过度(Hyperventilation);语言发展障碍(Language Development Disorders);模型, 遗传学(Models, Genetic);突变(Mutation);综合征(Syndrome);TCF转录因子类(TCF Transcription Factors);转录因子7样2蛋白(Transcription Factor 7-Like 2 Protein);转录因子(Transcription Factors);斑马鱼(Zebrafish)
DOI
10.1093/hmg/ddm099
PMID
17478476
发布时间
2022-03-31
- 浏览25
Human molecular genetics
1488-94页
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