• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al.

作者信息

Capra Anna Paola, Agolini Emanuele, La Rosa Maria Angela, Novelli Antonio, Briuglia Silvana

机构信息

Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, Messina, Italy.

Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.

出版信息

Genet Med. 2021 Feb;23(2):421-422. doi: 10.1038/s41436-020-00978-x. Epub 2020 Oct 5.

DOI:10.1038/s41436-020-00978-x
PMID:33012787
Abstract
摘要

相似文献

1
Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al.关于Fountain等人所著的《USP7基因的致病性变异导致一种伴有语言发育迟缓、行为改变和神经异常的神经发育障碍》的通信
Genet Med. 2021 Feb;23(2):421-422. doi: 10.1038/s41436-020-00978-x. Epub 2020 Oct 5.
2
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.USP7 中的致病性变异可导致神经发育障碍，表现为言语发育迟缓、行为改变和神经异常。
Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25.
3
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.由USP7基因变异引起的郝-方丹综合征的DNA甲基化表观特征、临床特征扩展及比较表观基因组分析
Genet Med. 2024 Mar;26(3):101050. doi: 10.1016/j.gim.2023.101050. Epub 2023 Dec 18.
4
Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.昊-喷泉综合征：32 例新病例揭示了对临床谱的新认识。
Clin Genet. 2024 May;105(5):499-509. doi: 10.1111/cge.14480. Epub 2024 Jan 14.
5
Response to Briuglia et al.
Genet Med. 2021 Feb;23(2):423-424. doi: 10.1038/s41436-020-00977-y. Epub 2020 Oct 5.
6
Hao-Fountain syndrome and genital disorders: report of a new possible association.郝-福泉综合征与生殖器异常：一种新的可能关联的报告。
Ital J Pediatr. 2022 Oct 22;48(1):182. doi: 10.1186/s13052-022-01367-7.
7
Correspondence on "Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder" by Cuinat et al.
Genet Med. 2023 Sep;25(9):100878. doi: 10.1016/j.gim.2023.100878. Epub 2023 Jun 5.
8
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.MYT1L 相关神经发育障碍：40 例新病例的描述及临床和分子方面的文献复习。
Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8.
9
Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.关于波拉等人的《MED12中的新生变异导致18名女性患X连锁综合征性神经发育障碍》的通信
Genet Med. 2021 Oct;23(10):2003-2004. doi: 10.1038/s41436-021-01208-8. Epub 2021 Jun 2.
10
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.神经剪接因子 NOVA2 中的从头移码变异导致常见的 C 末端延伸，并引起严重的神经发育障碍。
Am J Hum Genet. 2020 Apr 2;106(4):438-452. doi: 10.1016/j.ajhg.2020.02.013. Epub 2020 Mar 19.

引用本文的文献

1
Neurodevelopmental disorder: Hao-Fountain syndrome with USP7 mutation-a case report.神经发育障碍：伴有USP7突变的郝-方丹综合征——病例报告
J Med Case Rep. 2025 Jul 24;19(1):363. doi: 10.1186/s13256-025-05403-y.
2
Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome.通过对中国郝-方丹综合征患者进行全外显子组测序分析，鉴定出USP7基因中的两个变异体c.2697A > C和c.3305A > C 。
Glob Med Genet. 2024 Jan 16;11(1):13-19. doi: 10.1055/s-0043-1778089. eCollection 2024 Jan.
3
Hao-Fountain syndrome and genital disorders: report of a new possible association.
郝-福泉综合征与生殖器异常：一种新的可能关联的报告。
Ital J Pediatr. 2022 Oct 22;48(1):182. doi: 10.1186/s13052-022-01367-7.
4
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.外显子组测序揭示共有的基因组变异解决郝-方特恩综合征的复杂表现型
Genes (Basel). 2022 May 16;13(5):889. doi: 10.3390/genes13050889.