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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)2683-2694
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number11
DOIs
StatePublished - Nov 2010

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De Lange Syndrome
Developmental Biology
Molecular Biology
Mutation
Research
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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Cornelia de Lange Syndrome 4th Biennial Scientific and Educational Symposia abstracts. / Kline, Antonie Debra.

In: American Journal of Medical Genetics, Part A, Vol. 152, No. 11, 11.2010, p. 2683-2694.

Research output: Contribution to journalArticle

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