Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L ‐related Filippi syndrome to include an adolescent male with normal intellect
Author:
Affiliation:
1. Department of Medical Genetics, Cumming School of Medicine University of Calgary Calgary Alberta Canada
2. Department of Pediatrics Cumming School of Medicine, University of Calgary Calgary Alberta Canada
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62702
Reference7 articles.
1. Filippi syndrome: Further clinical characterization
2. CKAP2L mutation confirms the diagnosis of Filippi syndrome
3. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?
4. Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
5. Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus
Cited by 1 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. Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease;American Journal of Medical Genetics Part A;2024-05-13
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