• 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

嗅球发育不全：软骨发育不全性侏儒症被遗忘的诊断指标。

Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia.

作者信息

Debuf Marie-Julie, Benoit Valérie, Cassart Marie, Gajewska Kalina, Gauquier Nathalie, Meunier Colombine, Rassart Anne, Maystadt Isabelle

机构信息

Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium.

Service de Pédiatrie Université Catholique de Louvain Brussels Belgium.

出版信息

Clin Case Rep. 2019 Jun 3;7(7):1352-1354. doi: 10.1002/ccr3.2228. eCollection 2019 Jul.

DOI:10.1002/ccr3.2228
PMID:31360485
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6637348/
Abstract

Campomelic dysplasia (CD) and its variant acampomelic campomelic dysplasia (ACD) are caused by haploinsufficiency. This gene encodes a transcription factor crucial for embryogenesis and primarily expressed in the olfactory bulbs. The detection of agenesis of olfactory bulbs could help establish a prenatal diagnosis of CD or ACD, although prevalence of this sign remains unknown.

摘要

弯肢侏儒症（CD）及其变异型无肢弯肢侏儒症（ACD）是由单倍剂量不足引起的。该基因编码一种对胚胎发育至关重要的转录因子，主要在嗅球中表达。嗅球发育不全的检测有助于建立CD或ACD的产前诊断，尽管该体征的发生率尚不清楚。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d663/6637348/539717fc318e/CCR3-7-1352-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d663/6637348/539717fc318e/CCR3-7-1352-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d663/6637348/539717fc318e/CCR3-7-1352-g001.jpg

相似文献

1
Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia.嗅球发育不全：软骨发育不全性侏儒症被遗忘的诊断指标。
Clin Case Rep. 2019 Jun 3;7(7):1352-1354. doi: 10.1002/ccr3.2228. eCollection 2019 Jul.
2
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene.性反转伴中侧骨发育不良的 Campomelic 型，SOX9 基因突变纯合缺失。
Urology. 2012 Apr;79(4):908-11. doi: 10.1016/j.urology.2011.07.1402. Epub 2011 Oct 2.
3
Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.因涉及 17q24.3 号染色体上 SOX9 基因上游区段的相互易位导致的成人短肢-短指发育不良和性发育障碍。
Eur J Med Genet. 2021 Nov;64(11):104332. doi: 10.1016/j.ejmg.2021.104332. Epub 2021 Sep 2.
4
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.一例弯肢性骨发育异常的t(6;17)易位病例中的非典型断点。
Eur J Med Genet. 2014 Jul;57(7):315-8. doi: 10.1016/j.ejmg.2014.04.018. Epub 2014 May 10.
5
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.一个三代家族的变异性，该家族患有皮埃尔·罗宾序列征、弯骨发育不全性侏儒症以及因SOX9上游约1兆碱基的新型缺失（包括KCNJ2和KCNJ16）导致的智力残疾。
Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):61-8. doi: 10.1002/bdra.23463. Epub 2015 Dec 11.
6
A mutation creating an upstream initiation codon in the 5' UTR causes acampomelic campomelic dysplasia.在5'非翻译区产生一个上游起始密码子的突变会导致无股骨弯曲型先天性软骨发育不全。
Mol Genet Genomic Med. 2017 Mar 21;5(3):261-268. doi: 10.1002/mgg3.282. eCollection 2017 May.
7
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9.由SOX9上游960 kb缺失引起的先天性脊柱骨骺发育不良的家族性肢弯曲型。
Am J Med Genet A. 2009 Jun;149A(6):1183-9. doi: 10.1002/ajmg.a.32830.
8
Acampomelic form of campomelic dysplasia with SOX9 missense mutation.伴有SOX9错义突变的弯肢性发育不良的肢弯曲型
Indian J Pediatr. 2014 Jan;81(1):98-100. doi: 10.1007/s12098-013-1007-x. Epub 2013 Apr 7.
9
Campomelic Dysplasia弯肢侏儒症
10
A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction.一例弯肢性侏儒症合并腭裂修复手术困难的病例报告
Indian J Plast Surg. 2016 May-Aug;49(2):253-257. doi: 10.4103/0970-0358.191310.

本文引用的文献

1
The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.在一例伴有SOX9突变的病例中出现白质减少和胼胝体变薄。
Brain Dev. 2018 Apr;40(4):325-329. doi: 10.1016/j.braindev.2017.09.002. Epub 2017 Sep 28.
2
Construction and characterization of a sox9b transgenic reporter line.sox9b转基因报告基因系的构建与鉴定
Int J Dev Biol. 2014;58(9):693-9. doi: 10.1387/ijdb.140288jp.
3
Sox9 function in craniofacial development and disease.Sox9在颅面发育和疾病中的作用。
Genesis. 2011 Apr;49(4):200-8. doi: 10.1002/dvg.20717. Epub 2011 Apr 1.
4
The early history of the Sox genes.Sox 基因的早期历史。
Int J Biochem Cell Biol. 2010 Mar;42(3):378-80. doi: 10.1016/j.biocel.2009.12.003. Epub 2009 Dec 31.
5
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.弯肢侏儒症：妊娠早期的超声怀疑及两例最终诊断
Fetal Diagn Ther. 2008;24(4):452-7. doi: 10.1159/000176299. Epub 2008 Nov 26.
6
Sox9 and Sox10 influence survival and migration of oligodendrocyte precursors in the spinal cord by regulating PDGF receptor alpha expression.Sox9和Sox10通过调节血小板源性生长因子受体α（PDGF receptor alpha）的表达来影响脊髓中少突胶质前体细胞的存活和迁移。
Development. 2008 Feb;135(4):637-46. doi: 10.1242/dev.010454. Epub 2008 Jan 9.
7
Transcriptional control of chondrocyte fate and differentiation.软骨细胞命运与分化的转录调控。
Birth Defects Res C Embryo Today. 2005 Sep;75(3):200-12. doi: 10.1002/bdrc.20048.
8
A clinical and genetic study of campomelic dysplasia.弯肢侏儒症的临床与遗传学研究。
J Med Genet. 1995 Jun;32(6):415-20. doi: 10.1136/jmg.32.6.415.
9
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.弯肢侏儒综合征：综述、17例报告及对1971年由马罗泰等人首次报道的现17岁男孩的随访。
Am J Med Genet. 1983 May;15(1):3-28. doi: 10.1002/ajmg.1320150103.
10
Acampomelic campomelic dysplasia.
Pediatr Radiol. 1989;20(1-2):90-3. doi: 10.1007/BF02010643.