Article
Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes.
Proceedings of the National Academy of Sciences of the United States of America - 25 Sept 2001
Taddei I, Morishima M, Huynh T, Lindsay E A
Abstract excerpt
The del22q11 syndrome is associated with a highly variable phenotype despite the uniformity of the chromosomal deletion that causes the disease in most patients. Df1/+ mice, which model del22q11, present with reduced penetrance of cardiovascular defects similar to those seen in deleted patients but not with other del22q11-like findings. The reduced penetrance of cardiovascular defects is caused by the ability of...
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