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The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications

5 Aug 2021

Abstract excerpt

Hirschsprung disease (HSCR) is the leading cause of neonatal functional intestinal obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live births. HSCR is characterized by the absence of enteric ganglia in the distal colon, plausibly due to genetic defects perturbing the normal migration, proliferation, differentiation, and/or survival of the enteric neural crest cells as well as...

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PMID: 34422713
DOI: 10.3389/fped.2021.638093

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