• 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

Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion.

作者信息

Drovandi Stefania, Servetti Martina, Angeletti Andrea, Puliti Aldamaria, Ronchetto Patrizia, Tassano Elisa, Ghiggeri Gian Marco, Caridi Gianluca

机构信息

Division of Nephrology, Dialysis and Transplantation, Department of Internal Medicine, University of Genoa and IRCCS Azienda Ospedaliera Universitaria San Martino, Genoa, Italy.

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

出版信息

J Nephrol. 2021 Dec;34(6):2111-2115. doi: 10.1007/s40620-020-00959-y. Epub 2021 Jan 9.

DOI:10.1007/s40620-020-00959-y
PMID:33420968
Abstract
摘要

相似文献

1
Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion.一名患有间质性Xp11.22缺失的患者出现Dent病的非典型表现。
J Nephrol. 2021 Dec;34(6):2111-2115. doi: 10.1007/s40620-020-00959-y. Epub 2021 Jan 9.
2
Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.Xp11.22 微缺失包括 SHROOM4 和 CLCN5 与智力残疾、身材矮小、小头畸形和 Dent 病相关：病例报告。
BMC Med Genomics. 2019 Jan 10;12(1):6. doi: 10.1186/s12920-018-0471-6.
3
[Clinical features and genetic variants of Dent disease in 10 children].10例儿童丹特病的临床特征与基因变异
Zhonghua Er Ke Za Zhi. 2018 Apr 2;56(4):289-293. doi: 10.3760/cma.j.issn.0578-1310.2018.04.010.
4
Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria.与欧美地区的丹特病相比，日本丹特病具有更广泛的临床谱：86例非亲缘关系的低分子量蛋白尿患者的遗传学和临床研究。
Nephrol Dial Transplant. 2014 Feb;29(2):376-84. doi: 10.1093/ndt/gft394. Epub 2013 Sep 29.
5
Update on Dent Disease.牙病最新进展。
Pediatr Clin North Am. 2019 Feb;66(1):169-178. doi: 10.1016/j.pcl.2018.09.003.
6
Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome.临床表现和基因发现低分子量蛋白尿的三个男孩-三例探索牙本质发育不全和范可尼综合征。
BMC Nephrol. 2021 Jan 11;22(1):24. doi: 10.1186/s12882-020-02225-6.
7
From protein uptake to Dent disease: An overview of the CLCN5 gene.从蛋白摄取到 Dent 病：CLCN5 基因概述。
Gene. 2020 Jul 15;747:144662. doi: 10.1016/j.gene.2020.144662. Epub 2020 Apr 11.
8
A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5.一位患有 Dent 病和 Bartter 综合征特征的患者，其病因是 CLCN5 的一种新突变。
Eur J Pediatr. 2012 Feb;171(2):401-4. doi: 10.1007/s00431-011-1578-3. Epub 2011 Sep 20.
9
Phenotype of Dent Disease in a Cohort of Indian Children.一组印度儿童中丹特病的表型
Indian Pediatr. 2016 Nov 15;53(11):977-982. doi: 10.1007/s13312-016-0971-4.
10
Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.双Xp11.22缺失，包括与严重精神运动发育迟缓及丹特病相关的SHROOM4和CLCN5。
Mol Cytogenet. 2015 Feb 1;8:8. doi: 10.1186/s13039-015-0107-x. eCollection 2015.

引用本文的文献

1
A novel USP27X missense variant identified in an individual with intellectual disability.在一名智障患者中鉴定出一种新型USP27X错义变体。
J Hum Genet. 2025 Jul 2. doi: 10.1038/s10038-025-01359-5.

本文引用的文献

1
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.Dent 病的遗传学和表型异质性：月亮的阴暗面。
Hum Genet. 2021 Mar;140(3):401-421. doi: 10.1007/s00439-020-02219-2. Epub 2020 Aug 29.
2
Dent disease: A window into calcium and phosphate transport.牙本质发育不全症：钙磷转运的窗口。
J Cell Mol Med. 2019 Nov;23(11):7132-7142. doi: 10.1111/jcmm.14590. Epub 2019 Aug 31.
3
Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.
Xp11.22 微缺失包括 SHROOM4 和 CLCN5 与智力残疾、身材矮小、小头畸形和 Dent 病相关：病例报告。
BMC Med Genomics. 2019 Jan 10;12(1):6. doi: 10.1186/s12920-018-0471-6.
4
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.对405个未解决问题的家庭进行外显子组测序，鉴定出7个新的智力残疾基因。
Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3.
5
Autism-associated familial microdeletion of Xp11.22.与自闭症相关的Xp11.22家族性微缺失
Clin Genet. 2008 Aug;74(2):134-44. doi: 10.1111/j.1399-0004.2008.01028.x. Epub 2008 May 21.
6
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.新型KIAA1202基因的破坏与X连锁智力迟钝有关。
Hum Genet. 2006 Jan;118(5):578-90. doi: 10.1007/s00439-005-0072-2. Epub 2005 Oct 26.
7
An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.
Genomics. 2002 Apr;79(4):560-72. doi: 10.1006/geno.2002.6733.