Whole-exome sequencing identified a homozygousFNBP4mutation in a family with a condition similar to microphthalmia with limb anomalies

Author:

Kondo Yukiko1,Koshimizu Eriko1,Megarbane Andre2,Hamanoue Haruka3,Okada Ippei1,Nishiyama Kiyomi1,Kodera Hirofumi1,Miyatake Satoko1,Tsurusaki Yoshinori1,Nakashima Mitsuko1,Doi Hiroshi1,Miyake Noriko1,Saitsu Hirotomo1,Matsumoto Naomichi1

Affiliation:

1. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Kanazawa-ku; Yokohama; Japan

2. Medecal Genetics Unit; St. Joseph University; Beirut; Lebanon

3. Department of Obstetrics and Gynecology; Yokohama City University Graduate School of Medicine; Kanazawa-ku; Yokohama; Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome;Abouzeid;Am J Hum Genet,2011

2. Generating linkage mapping files from Affymetrix SNP chip data;Bahlo;Bioinformatics,2009

3. Pathogenesis of split-hand/split-foot malformation;Duijf;Hum Mol Genet,2003

4. Actin cytoskeleton: Are FH proteins local organizers;Frazier;Curr Biol,1997

5. Anophthalmos with limb anomalies (Waardenburg opththalmo (sic)-acromelic syndrome): report of a new Italian case with renal anomaly and review;Garavelli;Genet Couns,2006

Cited by 21 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

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