Cornelia de Lange Syndrome 4th Biennial Scientific and Educational Symposia abstracts

✍ Scribed by Antonie D. Kline

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 160 KB
• Volume: 152A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.33676

✦ Synopsis

Abstract

The following abstracts are presentations from the 4th Cornelia de Lange Syndrome Scientific Symposium on June 24, 2010 in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting, Dallas, Texas. This year, an Educational Symposium was added to the program. Cornelia de Lange Syndrome (CdLS) remains the prototype for the cohesinopathy disorders that have been described as having mutations in genes involved in the cohesin subunit in all cells. In addition to clinically related presentations, there were a significant number of developmental and molecular biology‐based talks, elucidating the genetic changes and progress towards research for treatment on this condition. A “typical” case presentation is included below as well. AMA CME credits were provided through the University of Texas Southwest. © 2010 Wiley‐Liss, Inc.