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Duplication of the ALDH1A2 gene in association with pentalogy of Cantrell: a case report

1 Dec 2013

Abstract excerpt

INTRODUCTION: The pentalogy of Cantrell is rare clustering of congenital defects, first described by Cantrell and colleagues in 1958. The exact pathogenesis for the pentalogy remains unknown and no specific genetic abnormalities have been correlated; however, a failure of embryogenesis has been suspected. The microduplication of chromosome 15q21.3 (57,529,846 to 58,949,448) found in our patient with pentalogy of...

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PMID: 24377748
DOI: 10.1186/1752-1947-7-287

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