Article

The Role of <i>de novo</i> and Ultra-Rare Variants in Hirschsprung Disease (HSCR): Extended Gene Discovery for Risk Profiling of Patients

2025-01-08

Abstract excerpt

<h4>Background</h4> Hirschsprung disease (HSCR) is a rare neurodevelopmental disorder caused by disrupted migration and proliferation of enteric neural crest cells during enteric nervous system development. Genetic studies suggest a complex etiology involving both rare and common variants, but the contribution of ultra-rare pathogenic variants (PAs) remains poorly understood. <h4>Methods</h4> We perform whole-ex...

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Literature Corpus work: 1312481b-7d1e-501a-add9-3d65dadcc42c
DOI: 10.1101/2025.01.07.25320162

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