首页 | 本学科首页   官方微博 | 高级检索  
     


Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders
Authors:Denny Schanze  Magdalena Harakalova  Cathy A. Stevens  Francesco Brancati  Bruno Dallapiccola  Peter Farndon  Victor E. F. Ferraz  Donna M. McDonald‐McGinn  Elaine H. Zackai  Michael Wright  Stef van Lieshout  Maartje J. Vogel  Mieke M. van Haelst  Martin Zenker
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
Abstract:
Keywords:ablepharon macrostomia syndrome  Fraser syndrome  cryptophthalmos  syndactyly  genitourinary anomalies
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号