Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus

Published:2021-04-29 Issue:7 Volume:185 Page:2198-2203
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Karakaya Taner¹^ORCID,Bilgic Ali Evren²,Eris Deniz³,Baser Burak⁴,Mermer Serdar⁴^ORCID,Yildiz Onur⁵

Affiliation:

1. Department of Medical Genetics Isparta City Hospital Isparta Turkey

2. Department of Pediatrics Isparta City Hospital Isparta Turkey

3. Department of Pediatric Cardiology Isparta City Hospital Isparta Turkey

4. Department of Medical Genetics Mersin City Training and Research Hospital Mersin Turkey

5. Department of Medical Genetics Şanlıurfa Training and Research Hospital Şanlıurfa Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62223

Reference16 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. Filippi syndrome with mild learning difficulties

5. Filippi syndrome: a new case with skeletal abnormalities.

Cited by 4 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

2. Prognostic significance of CKAP2L expression in patients with clear cell renal cell carcinoma;Frontiers in Genetics;2023-01-09

3. Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L ‐related Filippi syndrome to include an adolescent male with normal intellect;American Journal of Medical Genetics Part A;2022-02-28

4. Novel variants identified in CKAP2L in two siblings with Filippi Syndrome;Molecular Case Studies;2021-12-17

同舟云学术

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