Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas-Papas Syndrome
Author:
Affiliation:
1. Division of Medical Genetics; A. I. duPont Hospital for Children; Wilmington, Delaware
2. Division of Plastic Surgery; A. I. duPont Hospital for Children; Wilmington, Delaware
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35913/fullpdf
Reference11 articles.
1. Autosomal recessive multiple pterygium syndrome: A new variant;Aslan;Am J Med Genet,2000
2. Popliteal pterygium syndrome: Evidence for a severe autosomal recessive form;Bartsocas;J Med Genet,1972
3. Long term survival in TARP syndrome and confirmation of RBM10 as the disease causing gene;Gripp;Am J Med Genet Part A,2011
4. Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome;Kalay;Am J Hum Genet,2012
5. Craniofacial characteristics evidenced in Bartsocas-Papas syndrome from birth to five years;Maganzini;N Y State Dent J,2006
Cited by 22 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. Functions of the RIP kinase family members in the skin;Cellular and Molecular Life Sciences;2023-09-09
2. RIPK4 regulates cell–cell adhesion in epidermal development and homeostasis;Human Molecular Genetics;2022-02-26
3. A novel homozygous RIPK4 variant in a family with severe Bartsocas‐Papas syndrome;American Journal of Medical Genetics Part A;2021-03-13
4. Bartsocas-Papas Syndrome: A Lethal Multiple Pterygium Syndrome;JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH;2021
5. Genetics and signaling mechanisms of orofacial clefts;Birth Defects Research;2020-07-15
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