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Aria Belle

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Case report Open access Sep 2026

Syndromic Hirschsprung Disease With a Novel De Novo Sense Exonic SVA Insertion of TCF20.

The occurrence of congenital, biopsy-confirmed Hirschsprung disease in this patient suggests that intestinal aganglionosis may represent an uncommon extension of the gastrointestinal phenotype associated with TAND, in which chronic constipation and gastrointestinal dysmotility are already recognized.

Briana O'Leary, Aditya Ramanujan, Aria Belle et al. · 0 citations

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