Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient

Published:2016-11 Issue:6 Volume:56 Page:250-252
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenital Anomalies

Author:

Ramirez-Botero Andrés Felipe¹,Pachajoa Harry¹²

Affiliation:

1. Universidad Icesi; Health Science Faculty Congenital Abnormalities and Rare Diseases Research Center; Cali Colombia

2. Clinical Foundation Valle del Lili; Cali Colombia

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cga.12170/fullpdf

Reference17 articles.

1. Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry;Bardakjian;Am J Med Genet,2005

2. Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia;Chassaing;Clin Genet,2013

3. The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance;Chitayat;Am J Med Genet A,2007

4. Mutations in SOX2 cause anophthalmia;Fantes;Nat Genet,2003

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. The Molecular Basis of Human Anophthalmia and Microphthalmia;Journal of Developmental Biology;2019-08-14

2. Anophthalmia including next-generation sequencing-based approaches;European Journal of Human Genetics;2019-07-29

3. Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia;Human Genetics;2018-10-30

4. SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant;European Journal of Medical Genetics;2018-06

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