Two novel variants in a <scp>Bardet‐Biedl</scp> syndrome type 5 patient with severe renal phenotype-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Two novel variants in a Bardet‐Biedl syndrome type 5 patient with severe renal phenotype

Published:2022-08-21 Issue:11 Volume:27 Page:897-900
ISSN:1320-5358
Container-title:Nephrology
language:en
Short-container-title:Nephrology

Author:

Shao Yingfei¹,An Ming²,Shi Xiaomeng³,Shao Leping³^ORCID

Affiliation:

1. Wenzhou Medical University Renji college Wenzhou China

2. Department of Ophthalmology Qingdao Municipal Hospital Affiliated Qingdao University Qingdao China

3. Department of Nephrology Qingdao Municipal Hospital Affiliated Qingdao University Qingdao China

Publisher

Wiley

Subject

Nephrology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nep.14087

Reference9 articles.

1. Ocular Characteristics of Patients With Bardet–Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort

2. The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan

3. Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS)

4. Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

5. Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Cited by 2 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. Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China;Frontiers in Genetics;2023-11-15

2. Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families;Molecular Biology Reports;2023-10-28

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