High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s13353-023-00803-6.pdf
Reference24 articles.
1. Bertola DR, Pereira AC, Albano LMJ, De Oliveira PSL, Kim CA, Krieger JE (2006) PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test 10(3):186–191
2. Digilio M, Marino B (2001) Clinical manifestations of Noonan syndrome. Images Paediatr Cardiol 3(2):19–30
3. Essawi ML, Ismail MF, Afifi HH, Kobesiy MM, El Kotoury A, Barakat MM (2013) Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome. J Formos Med Assoc Taiwan Yi Zhi 112(11):707–712
4. Faienza MF, Giordani L, Ferraris M, Bona G, Cavallo L (2009) PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? Pediatr Cardiol 30(7):1012–1015
5. Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C et al (2008) Clinical and molecular characterization of 40 patients with Noonan syndrome. Eur J Med Genet 51(6):566–572
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