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DiGeorge Anomaly in the Absence of Chromosome 22q11.2 Deletion
The Journal of Pediatrics, 08/10/09
Rope AF et al. – These findings challenge a widely held belief that nearly 90% of DGA is due to chromosome 22q11.2 deletion. This study also calls attention to the heterogeneity of DGA, highlights similarities and differences between those with and without a chromosome 22q11.2 deletion, and attempts to resolve some confusing features of conditions associated with DGA.
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