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Article

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

1 Nov 2014

Abstract excerpt

OBJECTIVE: Chromosome 22q11.2 deletion is the most commonly occurring known microdeletion syndrome. Deaths related to the syndrome have been reported, but the magnitude of death has not been quantified. This study evaluated the deletion's impact on survival and its clinical manifestations in a large cohort of Chilean patients. DESIGN: Demographic and clinical data of individuals with 22q11 deletions diagnosed...

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PMID: 25377008
DOI: 10.1136/bmjopen-2014-005041

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