Phenotypic Overlap of 22q11.2 Microduplication and Noonan Syndrome in a Fetus with Increased NT, Facial Dysmorphism, and Narrow Pulmonary Trunk
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s40556-022-00343-9.pdf
Reference12 articles.
1. Sparkes R, Chernos J, Dicke F. Duplication of the 22q11.2 region associated with congenital cardiac disease. Cardiol Young. 2005;15:229–31. https://doi.org/10.1017/S1047951105000466.
2. Dupont C, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, et al. Prenatal diagnosis of 24 cases of Microduplication 22q11.2: an Investigation of Phenotype-Genotype correlations. Prenat Diagn. 2015;35(1):35–43.
3. Kylat RI. 22q11.2 Microduplication: an enigmatic genetic disorder. J Pediatr Genet. 2018;7:138–42. https://doi.org/10.1055/s-0038-1655754.
4. de La Rochebrochard C, Joly-Hélas G, Goldenberg A, Durand I, Laquerrière A, Ickowiczet V, et al. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet A. 2006;140(14):1608–13.
5. Wentzel C, Fernström M, Ohrner Y, Annerén G, Thuresson AC. Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet. 2008;51(6):501–10.
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