Article

Biallelic variants of the first Kunitz domain of SPINT2 cause none syndromic form of congenital diarrhea and tufting enteropathy

2023-05-17

Abstract excerpt

Biallelic SPINT2 pathogenic variants cause a syndromic form of congenital diarrhea and enteropathy (OMIM 270420). To date, all 34 patients reported presented with additional extra-intestinal syndromic features. We report on a 5-year-old girl who presented early in life with congenital diarrhea and was found to have a novel homozygous variant in SPINT2. She presented with congenital diarrhea, pathological studies c...

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Literature Corpus work: ce557806-39c2-5591-a2a1-b03ce0993686
DOI: 10.21203/rs.3.rs-2907194/v1

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