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• W2886183738 abstract "Renal tubular dysgenesis (RTD) is a developmental abnormality of the nephron characterized by fetal anuria, oligohydramnios, and severe postnatal hypotension. Genetic forms have an autosomal recessive inheritance and are caused by mutations in genes encoding key components of the renin-angiotensin pathway. We report three patients from two unrelated families with RTD due to pathogenic variants of the angiotensin-converting enzyme (ACE) gene, in whom RTD was associated with microcolon. We also detail key variations of the renin-angiotensin system in one of these infants. The severe intestinal developmental abnormality culminating in microcolon and early terminal ileum perforation/necrotizing enterocolitis is a novel finding not previously associated with RTD, which points to a role of the renin-angiotensin system in gut development." @default.
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• W2886183738 date "2019-04-01" @default.
• W2886183738 modified "2023-10-17" @default.
• W2886183738 title "Renal tubular dysgenesis and microcolon, a novel association. Report of three cases" @default.
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• W2886183738 doi "https://doi.org/10.1016/j.ejmg.2018.07.024" @default.
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• W2886183738 hasPublicationYear "2019" @default.
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