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Screening Newborn Blood Spots for 22q11.2 Deletion Syndrome Using Multiplex Droplet Digital PCR

12 Nov 2014

Abstract excerpt

BACKGROUND: The diagnosis of 22q11 deletion syndrome (22q11DS) is often delayed or missed due to the wide spectrum of clinical involvement ranging from mild to severe, often life-threatening conditions. A delayed diagnosis can lead to life-long health issues that could be ameliorated with early intervention and treatment. Owing to the high impact of 22q11DS on public health, propositions have been made to include...

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PMID: 25388430
DOI: 10.1373/clinchem.2014.230086

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