Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases

Published:2006-08-26 Issue:4 Volume:166 Page:327-331
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Garnier Arnaud,Dauger Stéphane,Eurin Danièle,Parisi Ida,Parenti Giancarlo,Garel Catherine,Delbecque Katy,Baumann Clarisse

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-006-0239-4.pdf

Reference13 articles.

1. Bennett CP, Berry AC, Maxwell DJ, Seller MJ (1992) Chondrodysplasia punctata: another possible X-linked recessive case. Am J Med Genet 44(6):795–799

2. Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G (2003) X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med Genet A 117(2):164–168

3. Curry CJ, Magenis RE, Brown M, Lanman JT Jr, Tsai J, O’Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ (1984) Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 311(16):1010–1015

4. Eash DD, Weaver DD, Brunetti-Pierri N (2003) Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system. Am J Med Genet A 122(1):70–75

5. Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA (1995) A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81(1):15–25

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Surgical Treatment of Chondrodysplasia Punctata Tibial-Metacarpal Type Until Skeletal Maturity;JBJS Case Connector;2022

2. Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE;Frontiers in Genetics;2021-09-24

3. Contribution of computed tomography and magnetic resonance imaging in the analysis of fetal craniofacial malformations;Pediatric Radiology;2021-04-14

4. Posterior and Anterior Fusion for Severe Cervical Kyphosis in a Patient with Chondrodysplasia Punctata;JBJS Case Connector;2021

5. Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation;BMC Pediatrics;2019-07-23

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3