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- W3215524311 abstract "Familial idiopathic intestinal varicosis (FIIV) is a rare entity, characterized by distention and elongation of submucosal veins of the small bowel and/or the colon. The symptoms include rectal bleeding, abdominal pain and diarrhea. Asymptomatic cases were also reported as incidental findings on screening colonoscopy, which likely renders underreporting. FIIV is characterized by colonic and intestinal varices in the absence of portal hypertension. Recently, a single family with dominant inheritance of FIIV associated with a pathogenic variant in NKX2-3 was reported. NKX2-3 is a homeobox containing transcription factor and essential for embryonic development and the maintenance of differentiated tissue functions, especially in the intestine." @default.
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- W3215524311 date "2021-08-01" @default.
- W3215524311 modified "2023-09-29" @default.
- W3215524311 title "Autosomal Dominant Familial Intestinal Varicosis and Polyposis coli is associated with Pathogenic Variants in NKX2.3" @default.
- W3215524311 doi "https://doi.org/10.1055/s-0041-1734265" @default.
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