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Article

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

10 Jan 2019

Abstract excerpt

BACKGROUND: Intestinal malrotation is a potentially life-threatening congenital anomaly due to the risk of developing midgut volvulus. The reported incidence is 0.2%-1% and both apparently hereditary and sporadic cases have been reported. Intestinal malrotation is associated with a few syndromes with known genotype but the genetic contribution in isolated intestinal malrotation has not yet been reported. Rare...

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Share to Genomic variations and chromosomal abnormalities
Share to Intestinal Malrotation and Obstruction Disorders
Share to Pediatric Hepatobiliary Diseases and Treatments

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PMID: 30632303
DOI: 10.1002/mgg3.549

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