ArticlebioRxiv : the preprint server for biology2025
Combinatorial multiomic analysis from a pedigree of Sox10
Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Hirschsprung disease (HSCR) is characterized by absence of enteric ganglia (aganglionosis) along variable lengths of the distal intestine. This disorder results from deficient colonization of fetal intestine by enteric neural crest-derived cells (ENCDCs). HSCR exhibits complex, multifactorial inheritance with penetrance and severity varying widely even within a family. Results: To identify loci that modify aganglionosis extent we undertook genome-wide association study (GWAS) of an extended pedigree of Conclusions: This study identifies genome intervals and intrinsic genes that modify
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