De novo variant of SETD1A causes neurodevelopmental disorder with dysmorphic facies: A case report.
作者信息
Zhang Jia, Tao Qiuji, Yang Zuozhen, Li Yang, Gan Jing
机构信息
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Obstetrics & Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education, Sichuan University, Chengdu, China.
出版信息
Psychiatry Clin Neurosci. 2022 Feb;76(2):58-59. doi: 10.1111/pcn.13310. Epub 2021 Dec 3.
Abstract
摘要
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本文引用的文献
1
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.鉴定人类和果蝇中 SETD1A 杂合不足的特征，定义了一种新的神经发育综合征。
Mol Psychiatry. 2021 Jun;26(6):2013-2024. doi: 10.1038/s41380-020-0725-5. Epub 2020 Apr 28.
2
De Novo and Inherited SETD1A Variants in Early-onset Epilepsy.新发和遗传 SETD1A 变异与早发性癫痫。
Neurosci Bull. 2019 Dec;35(6):1045-1057. doi: 10.1007/s12264-019-00400-w. Epub 2019 Jun 13.
3
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.SETD1A基因中罕见的功能丧失变异与精神分裂症和发育障碍有关。
Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14.
4
Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene.精神分裂症风险中的功能丧失变异及 SETD1A 作为候选易感性基因
Neuron. 2014 May 21;82(4):773-80. doi: 10.1016/j.neuron.2014.04.043.
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