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CSHL geneticists solve mystery of EEC Syndrome's variable severity in children
Date:6/14/2013

protective, opening the way to pathology.

"The only way you can have the EEC mutation and be normal, or have slight symptoms of the illness such as a bit of webbing between two toes, is to have robust amounts of TAp63 protein in cells when and where it is needed, during development," says Mills.

She hopes that her team's discovery that TAp63 affects the presence of birth defects will encourage doctors treating children with EEC to compare those only mildly affected with siblings or other children who have a severe form of the disease. "It will be important to sequence DNA from these children and compare the results. What's different? If we find differences, we have nailed it. If we find that the sequences are exactly the same, then we might look at several factors regulating gene expression for evidence of how TAp63 is expressed differently in each group."


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Contact: Peter Tarr
tarr@cshl.edu
516-367-8455
Cold Spring Harbor Laboratory
Source:Eurekalert

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