• 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

Skeletal malformations and polycystic kidney disease.

作者信息

Turco A E, Peissel B, Rossetti S, Pignatti P F, Padovani E M, Chiaffoni G P

出版信息

J Med Genet. 1994 Sep;31(9):741-2. doi: 10.1136/jmg.31.9.741-a.

DOI:10.1136/jmg.31.9.741-a
PMID:7815449
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050093/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6093/1050093/5cda5cc48a35/jmedgene00288-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6093/1050093/5cda5cc48a35/jmedgene00288-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6093/1050093/5cda5cc48a35/jmedgene00288-0081-a.jpg

相似文献

1
Skeletal malformations and polycystic kidney disease.骨骼畸形和多囊肾病。
J Med Genet. 1994 Sep;31(9):741-2. doi: 10.1136/jmg.31.9.741-a.
2
Skeletal malformations and polycystic kidney disease.骨骼畸形和多囊肾病。
J Med Genet. 1993 Nov;30(11):973. doi: 10.1136/jmg.30.11.973.
3
Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome?胫骨缺如——多指畸形——伴有腓骨双下肢畸形的三节指骨拇指：是维尔纳（麦库西克188770）综合征的可变表达？
Am J Med Genet. 1995 Jan 30;55(3):261-4. doi: 10.1002/ajmg.1320550303.
4
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.一名产前检测出双侧肾囊肿且伴有多处骨骼畸形的新生儿常染色体显性多囊肾病的分子遗传学诊断
J Med Genet. 1993 May;30(5):419-22. doi: 10.1136/jmg.30.5.419.
5
Dandy-Walker syndrome with postaxial polydactyly associated with facial dysmorphism and bone abnormalities.丹迪-沃克综合征合并轴后多指（趾）畸形，伴有面部畸形和骨骼异常。
Genet Couns. 2006;17(2):253-5.
6
[Hypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela].[胫骨发育不全、多指畸形和三节指骨拇指：委内瑞拉描述的首个家族]
Invest Clin. 1997 Dec;38(4):219-26.
7
Polydactyly in a carrier of the gene for the Meckel syndrome.梅克尔综合征基因携带者的多指（趾）畸形
Am J Med Genet. 1994 Nov 15;53(3):207-9. doi: 10.1002/ajmg.1320530302.
8
Meckel-Gruber syndrome.梅克尔-格鲁伯综合征
Kathmandu Univ Med J (KUMJ). 2006 Jul-Sep;4(3):334-6.
9
Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder.胫骨缺如/发育不全、多指畸形、小脑后蛛网膜囊肿及其他异常：一种常染色体隐性疾病。
J Med Genet. 1995 Nov;32(11):896-900. doi: 10.1136/jmg.32.11.896.
10
Dandy-Walker malformation in the Meckel syndrome.梅克尔综合征中的丹迪-沃克畸形
Am J Med Genet. 1995 Jan 2;55(1):57-61. doi: 10.1002/ajmg.1320550116.

本文引用的文献

1
Bilateral "hereditary" polycystic disease of the kidneys associated with bilateral teratodactyly of the feet.
Br J Urol. 1961 Dec;33:473-7.
2
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.一名产前检测出双侧肾囊肿且伴有多处骨骼畸形的新生儿常染色体显性多囊肾病的分子遗传学诊断
J Med Genet. 1993 May;30(5):419-22. doi: 10.1136/jmg.30.5.419.
3
Skeletal malformations and polycystic kidney disease.骨骼畸形和多囊肾病。
J Med Genet. 1993 Nov;30(11):973. doi: 10.1136/jmg.30.11.973.
4
Five-fingered hand associated with partial or complete tibial absence and pre-axial polydactyly. A kindred of 15 affected individuals in five generations.
J Bone Joint Surg Br. 1983 Jan;65(1):60-3. doi: 10.1302/0301-620X.65B1.6822603.
5
Syndrome of tibial hypoplasia with polydactyly-syndactyly in two generations.
Prog Clin Biol Res. 1982;104:289-97.
6
A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations.三代人中出现的多指并指畸形和三节拇指综合征。
Clin Genet. 1974;6(1):51-9. doi: 10.1111/j.1399-0004.1974.tb00630.x.
7
Werner mesomelic dysplasia. Report of two variant cases.维尔纳中肢发育不全。两例变异病例报告。
J Belge Radiol. 1987;70(4):337-9.
8
Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome?发育不全的胫骨伴轴后多指畸形：一种新的显性综合征？
J Med Genet. 1987 Jun;24(6):369-72. doi: 10.1136/jmg.24.6.369.
9
Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia.足部IV型并指/多指畸形伴单侧胫骨缺如
Am J Med Genet. 1991 Aug 1;40(2):144-5. doi: 10.1002/ajmg.1320400204.