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Autonomic failure associated with 16p11.2 duplication in two siblings.

作者信息

Denkensohn Cole P, Cook Glen A

机构信息

Department of Neurology, Walter Reed National Military Medical Center, Bethesda, MD, USA.

出版信息

Clin Auton Res. 2024 Dec;34(6):603-605. doi: 10.1007/s10286-024-01058-9. Epub 2024 Aug 14.

DOI:10.1007/s10286-024-01058-9
PMID:39143262
Abstract
摘要

相似文献

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Autonomic failure associated with 16p11.2 duplication in two siblings.两名兄弟姐妹中与16p11.2重复相关的自主神经功能衰竭。
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2
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3
Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication.两名自闭症谱系障碍患者的同胞兄妹，存在两种不同的遗传异常：父源 16p11.2 微缺失和母源 17q12 微重复。
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Eur J Hum Genet. 2012 May;20(5):540-6. doi: 10.1038/ejhg.2011.244. Epub 2012 Jan 11.
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Motor difficulties in 16p11.2 copy number variation.16号染色体短臂11.2区域拷贝数变异所致的运动障碍
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16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.16p11.2缺失与重复：在一个大型临床确诊队列中对神经学表型进行特征描述
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本文引用的文献

1
Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome.16号染色体p11.2重复综合征双胞胎中的阵发性运动诱发性运动障碍
Neurol Genet. 2021 Jan 11;7(1):e549. doi: 10.1212/NXG.0000000000000549. eCollection 2021 Feb.
2
Language characterization in 16p11.2 deletion and duplication syndromes.16p11.2缺失和重复综合征中的语言特征
Am J Med Genet B Neuropsychiatr Genet. 2020 Sep;183(6):380-391. doi: 10.1002/ajmg.b.32809. Epub 2020 Jul 11.
3
The mutational constraint spectrum quantified from variation in 141,456 humans.
从 141456 名人类个体的变异中量化的突变约束谱。
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
4
Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome.非典型帕金森病伴纹状体多巴胺摄取严重降低，与16p11.2重复综合征相关。
J Neurol. 2019 Mar;266(3):775-776. doi: 10.1007/s00415-019-09182-7. Epub 2019 Jan 7.
5
Focal Cortical Anomalies and Language Impairment in 16p11.2 Deletion and Duplication Syndrome.16p11.2 缺失和重复综合征中的局灶性皮质异常和语言障碍。
Cereb Cortex. 2018 Jul 1;28(7):2422-2430. doi: 10.1093/cercor/bhx143.
6
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.16p11.2缺失与重复：在一个大型临床确诊队列中对神经学表型进行特征描述
Am J Med Genet A. 2016 Nov;170(11):2943-2955. doi: 10.1002/ajmg.a.37820. Epub 2016 Jul 13.
7
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.CLN3 隐性突变致 16p11.2 缺失综合征临床表型不典型
Eur J Hum Genet. 2014 Mar;22(3):369-73. doi: 10.1038/ejhg.2013.141. Epub 2013 Jul 17.
8
A method and server for predicting damaging missense mutations.一种预测有害错义突变的方法及服务器。
Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248.
9
Microduplications of 16p11.2 are associated with schizophrenia.16号染色体短臂11.2区的微小重复与精神分裂症有关。
Nat Genet. 2009 Nov;41(11):1223-7. doi: 10.1038/ng.474. Epub 2009 Oct 25.
10
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.16p11.2 区新发和遗传缺失/重复相关表型谱在孤独症谱系障碍患者中的研究。
J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.