New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33488/fullpdf
Reference9 articles.
1. Dandy-Walker syndrome: Experience at the Hospital for Sick Children, Toronto;Asai;Pediatr Neurosci,1989
2. Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum;Ben Hamouda;Acta Orthop Belg,2001
3. Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings;Guschmann;Prenat Diagn,2001
4. Beemer-Langer syndrome with manifestations of orofaciodigital syndrome;Lin;Am J Med Genet,1991
5. A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst;Moerman;Clin Genet,1985
Cited by 5 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. G9a inactivation in progenitor cells with Isl1-Cre with reduced recombinase activity models aspects of Dandy-Walker complex;Biology Open;2023-07-28
2. Dandy-Walker Malformation with an Occipital Cephalocele in an Infant: A Case Report;JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH;2020
3. The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports;Journal of Child Neurology;2017-06-21
4. Dandy-Walker Syndrome With Severe Velopharyngeal Dysfunction;Journal of Craniofacial Surgery;2015-01
5. Abnormalities of the Central Nervous System Across the Ciliopathy Spectrum;Cilia and Nervous System Development and Function;2012-12-17
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