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Author

D. Sweetser

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We have 2 of 137 papers

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Case report 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
Open access Sep 2026

Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration

The RUBCN-related disorders are established and expand as a clinically and molecularly distinct subset of autophagy-related diseases and enhances understanding of autophagy-related neurodevelopmental disorders and provides a foundation for future therapeutic investigations.

S. Efthymiou, K. Tabata, H. Dafsari et al. · 0 citations

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