Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1998842 | Molecular Genetics and Metabolism | 2009 | 5 Pages |
Abstract
Diverse and clinically significant structural heart defects appear to be highly prevalent in cblC, perhaps due to abnormal DNA and histone methylation during embryogenesis. The specific cardiac defects detected in our cohort were variable, and studies with a larger number of patients are needed to establish which forms are most common. Routine and periodic cardiovascular evaluation may be indicated in patients with cblC.
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Authors
Laurie E. Profitlich, Brian Kirmse, Melissa P. Wasserstein, George A. Diaz, Shubhika Srivastava,