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Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes

15 Apr 2008

Abstract excerpt

BACKGROUND: Mental retardation can be caused by copy number variations (deletions, insertions, duplications), ranging in size from 1 kb to several megabases. Array based comparative genomic hybridisation (array-CGH) allows detection of an increasing number of genomic alterations. METHODS: A series of 46 patients with mental retardation and congenital abnormalities (previously screened for subtelomeric...

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PMID: 18413373
DOI: 10.1136/jmg.2008.057596

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