Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders

Author:

Schanze Denny1,Harakalova Magdalena2,Stevens Cathy A.3,Brancati Francesco4,Dallapiccola Bruno5,Farndon Peter6,Ferraz Victor E. F.7,McDonald-McGinn Donna M.8,Zackai Elaine H.8,Wright Michael9,van Lieshout Stef2,Vogel Maartje J.2,van Haelst Mieke M.210,Zenker Martin111

Affiliation:

1. Institute of Human Genetics; University Hospital Magdeburg; Germany

2. Department of Medical Genetics; University Medical Center; Utrecht The Netherlands

3. Department of Medical Genetics; T.C. Thompson Children's Hospital; Chattanooga Tennessee

4. IRCCS Casa Sollievo della Sofferenza Hospital; Mendel Laboratory; Rome Italy

5. Bambino Gesù Children Hospital; IRCCS; Rome Italy

6. Clinical Genetics Unit; Birmingham Women's Healthcare Trust, Birmingham; United Kingdom

7. Departamento de Genetica; Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo; Brazil

8. Clinical Genetics Center; The Children's Hospital of Philadelphia, 34th St. & Civic Center Blvd, Philadelphia; Pennsylvania

9. Northern Genetics Service; Newcastle upon Tyne Hospitals; UK

10. Section of Genomic Medicine; Imperial College London; London UK

11. Institute of Human Genetics; University Hospital Erlangen; Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 7 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. Skin and Lacrimal Drainage System;Ocular Pathology;2025

2. Characteristic dental pattern with hypodontia and short roots in Fraser syndrome;American Journal of Medical Genetics Part A;2020-06-02

3. Anomalies of the oral cavity in newborns;Journal of Perinatology;2020-01-10

4. Skin and Lacrimal Drainage System;Ocular Pathology;2020

5. Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome;BMC Pulmonary Medicine;2019-08-28

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