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Microdeletion and Microduplication Syndromes

6 Mar 2012

Abstract excerpt

The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs...

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PMID: 22396478
DOI: 10.1369/0022155412440001

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