• 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

相似文献

1
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism.
J Med Genet. 2001 Apr;38(4):262-5. doi: 10.1136/jmg.38.4.262.
2
Spondyloepiphyseal dysplasia congenita.先天性脊柱骨骺发育不良
Radiology. 1970 Feb;94(2):313-22. doi: 10.1148/94.2.313.
3
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.成骨不全症和 FGFR3 N540K 突变患者的神经影像学和神经学表现。
Am J Med Genet A. 2012 Dec;158A(12):3119-25. doi: 10.1002/ajmg.a.35642. Epub 2012 Nov 19.
4
Anauxetic dysplasia: A rare clinical entity.生长迟缓性发育异常：一种罕见的临床病症。
Turk J Pediatr. 2018;60(1):89-93. doi: 10.24953/turkjped.2018.01.014.
5
Undiagnosed syndrome of psychomotor retardation, low birthweight dwarfism, skeletal, dental, dermal and genital anomalies.未确诊的精神运动发育迟缓、低出生体重侏儒症、骨骼、牙齿、皮肤和生殖器异常综合征。
Birth Defects Orig Artic Ser. 1975;11(2):364-7.
6
Mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia.中肢短小侏儒症、骨骼异常和外胚层发育不良。
J Clin Dysmorphol. 1984 Spring;2(1):14-8.
7
The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia.
Am J Dis Child. 1967 Feb;113(2):214-21. doi: 10.1001/archpedi.1967.02090170078006.
8
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
Am J Med. 1968 Dec;45(6):948-53. doi: 10.1016/0002-9343(68)90193-9.
9
[Morphological and biochemical study of growth cartilage in osteochondrodysplasias].[骨软骨发育不良中生长软骨的形态学和生物化学研究]
Arch Fr Pediatr. 1977 Mar;34 Suppl 1:I-LXXX.
10
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.骨发育异常性皮肤异色症：组织学特征及基于面板的外显子组测序在诊断中的作用
Ultrastruct Pathol. 2018 Mar-Apr;42(2):91-96. doi: 10.1080/01913123.2018.1427166. Epub 2018 Feb 9.

引用本文的文献

1
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.软骨-毛发发育不全-矮小身材综合征谱障碍的两个韩国儿童中存在 RMRP 突变：病例报告。
Medicine (Baltimore). 2024 May 24;103(21):e37247. doi: 10.1097/MD.0000000000037247.
2
Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease () Gene Variants: The First Case in Korea.线粒体RNA加工内切核糖核酸酶（）基因变异导致的无毛发稀少的干骺端发育异常：韩国首例病例
Ann Lab Med. 2021 May 1;41(3):346-349. doi: 10.3343/alm.2021.41.3.346.
3
'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.“无脱发性干骺端发育不良”可表现为迟发性骨骼外表现。
J Med Genet. 2020 Jan;57(1):18-22. doi: 10.1136/jmedgenet-2019-106131. Epub 2019 Aug 14.
4
Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.核糖体生物合成在骨骼发育及骨骼疾病发病机制中的作用
Biochim Biophys Acta. 2014 Jun;1842(6):769-78. doi: 10.1016/j.bbadis.2013.11.010. Epub 2013 Nov 16.
5
Axial correction of the lower limb deformities in a girl with anauxetic dysplasia.
Musculoskelet Surg. 2014 Jun;98(1):71-5. doi: 10.1007/s12306-012-0200-9. Epub 2012 Apr 24.
6
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.对一个四口之家的外显子组重测序发现 POP1 突变是一种新型骨骼发育不良的原因。
PLoS Genet. 2011 Mar;7(3):e1002027. doi: 10.1371/journal.pgen.1002027. Epub 2011 Mar 24.
7
When ribosomes go bad: diseases of ribosome biogenesis.当核糖体出现故障时：核糖体生物合成疾病
Mol Biosyst. 2010 Mar;6(3):481-93. doi: 10.1039/b919670f. Epub 2010 Jan 11.
8
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.施姆克免疫性骨发育不良与软骨毛发发育不全的临床及遗传学鉴别
Am J Med Genet A. 2008 Aug 1;146A(15):2013-7. doi: 10.1002/ajmg.a.32406.
9
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.极端矮小患者中严重致残性突变表明RNA加工内切核糖核酸酶RMRP是一种重要的细胞生长调节因子。
Am J Hum Genet. 2005 Nov;77(5):795-806. doi: 10.1086/497708. Epub 2005 Sep 29.

Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism.

作者信息

Horn D, Rupprecht E, Kunze J, Spranger J

出版信息

J Med Genet. 2001 Apr;38(4):262-5. doi: 10.1136/jmg.38.4.262.

DOI:10.1136/jmg.38.4.262
PMID:11370632
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1734840/
Abstract
摘要