Article

LEF1 Gene Mutation Impairs Intestinal Barrier and Causes Diarrhea

2026-01-20

Abstract excerpt

<title>Abstract</title> <p>Through investigating pediatric intractable chronic diarrhea, we identified a de novo, unreported heterozygous missense mutation in LEF1 (c.880C > T, p.Pro294Ser) via whole-exome sequencing in a 1.5-year-old boy with 4-year persistent yellow-green watery diarrhea, complicated by protein-energy malnutrition and growth retardation refractory to conventional therapies. Gastrointestinal end...

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Literature Corpus work: 9ee0c4e8-9b4f-5172-b947-dd2ffbcdb32d
DOI: 10.21203/rs.3.rs-8469007/v1

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