The 22q11.2 deletion: from diversity to a single gene theory.

Abstract excerpt

The 22q11 deletion syndromes are a group of conditions in which a characteristic spectrum of congenital cardiac defects may be associated with a wide range of noncardiological congenital anomalies. These syndromes are all linked by a deletion in the long arm of chromosome 22. Although it is a large deletion, containing many genes, recent advances have led to the belief that the etiology of the diverse...

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