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Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts
Author(s) -
Kline Antonie D.,
Calof Anne L.,
Schaaf Cheri A.,
Krantz Ian D.,
Jyonouchi Soma,
Yokomori Kyoko,
Gauze Maria,
Carrico Cheri S.,
Woodman Julie,
Gerton Jennifer L.,
Vega Hugo,
Levin Alex V.,
Shirahige Katsuhiko,
Champion Michele,
Goodban Marjorie T.,
O'Connor Julia T.,
Pipan Mary,
Horsfield Julia,
Deardorff Matthew A.,
Ishman Stacey L.,
Dorsett Dale
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36417
Subject(s) - cohesin , cornelia de lange syndrome , focus (optics) , phenotype , biology , physiology , genetics , physics , gene , chromatin , optics
Cornelia de Lange syndrome (CdLS) is the prototype for the cohesinopathy disorders that have mutations in genes associated with the cohesin subunit in all cells. Roberts syndrome is the next most common cohesinopathy. In addition to the developmental implications of cohesin biology, there is much translational and basic research, with progress towards potential treatment for these conditions. Clinically, there are many issues in CdLS faced by the individual, parents and caretakers, professionals, and schools. The following abstracts are presentations from the 5th Cornelia de Lange Syndrome Scientific and Educational Symposium on June 20–21, 2012, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting, Lincolnshire, IL. The research committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts and subsequently disseminates the information to the families. In addition to the basic science and clinical discussions, there were educationally‐focused talks related to practical aspects of management at home and in school. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD. © 2014 Wiley Periodicals, Inc.