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Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosis

14 Oct 2019

Abstract excerpt

The objective of this mini-review is to provide insights on the advances in the understanding of the genetic variants associated with different manifestations of Hirschsprung disease, which may present with a range of denervation from a short segment of colon to total colonic and small bowel or extensive aganglionosis. A recent article in this journal documented potential gene variants involved in long-segment...

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PMID: 31609069
DOI: 10.1111/nmo.13732

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