ANKRD11相关KBG综合征的电临床特征及预后：一项新报告与文献综述 - Suppr | 超能文献

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Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.ANKRD11相关KBG综合征的电临床特征及预后：一项新报告与文献综述

Seizure. 2021 Feb;85:151-154. doi: 10.1016/j.seizure.2020.12.017. Epub 2020 Dec 31.

2

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.与GEFS +表型谱相关的KBG综合征轻度表型个体中的新型ANKRD11基因突变：病例报告

BMC Med Genet. 2019 Jan 14;20(1):16. doi: 10.1186/s12881-019-0745-7.

3

Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.KBG综合征中ANKRD11基因新发突变的听力学表现：1例报告及文献复习

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4

A splice-site variant in ANKRD11 associated with classical KBG syndrome.与经典KBG综合征相关的ANKRD11中的一个剪接位点变异体。

Am J Med Genet A. 2017 Oct;173(10):2844-2846. doi: 10.1002/ajmg.a.38397. Epub 2017 Aug 17.

5

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.39例由ANKRD11缺失或突变引起的KBG综合征患者的临床和分子学发现

Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8.

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Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.ANKRD11 部分缺失导致 KBG 表型与 16q24.3 微缺失综合征不同。

Am J Med Genet A. 2013 Apr;161A(4):835-40. doi: 10.1002/ajmg.a.35739. Epub 2013 Mar 12.

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Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.突出且延长的尾骨，是与ANKRD11新突变相关的KBG综合征的一种新表现。

Am J Med Genet A. 2018 Sep;176(9):1991-1995. doi: 10.1002/ajmg.a.40386. Epub 2018 Aug 8.

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Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene.KBG综合征的脑电图检查结果：一名ANKRD11基因存在新突变的儿童

Acta Neurol Belg. 2015 Dec;115(4):779-82. doi: 10.1007/s13760-014-0413-9. Epub 2014 Dec 28.

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Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.宽囟门、言语发育迟缓及声音嘶哑在 KBG 综合征诊断中的作用：涉及基因或 16q24.3 亚微观染色体重排的致病性变异的 23 例临床描述。

Genes (Basel). 2021 Aug 17;12(8):1257. doi: 10.3390/genes12081257.

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Clinical and genetic aspects of KBG syndrome.KBG综合征的临床与遗传学特征

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KBG syndrome: report and follow-up on three unrelated patients observed at different ages.KBG综合征：三例不同年龄非亲缘关系患者的报告及随访

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Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.