Population
Patients with a 22q11 deletion (DGS/VCFS phenotype) and developing mouse embryo models
Design
Review
Authors
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May prompt genetic evaluation for conotruncal defects; leaves open precise gene contributions to aortic arch anomalies.
Understanding the genetic mechanisms of 22q11 deletion syndrome, including haploinsufficiency of critical genes in the DGCR, is crucial for elucidating cardiac development and disease.
Goldmuntz et al. (1997) studied this question.
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