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Start Over Descriptor "gut abnormalities" Journal frontiers in pediatrics
2 results on '"gut abnormalities"'

2. Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

Author

I. Infantino, F. Tocchioni, M. Ghionzoli, R. Coletta, F. Morini, and A. Morabito

Subjects
spleen abnormalities, gut abnormalities, DYRK1A, intestinal obstruction, splenectomy, Pediatrics, RJ1-570
Abstract

DYRK1A syndrome has been extensively studied primarily with regard to neurologic and other phenotypic features such as skeleton and craniofacial alterations. In the present paper, we aim to highlight unusual anomalies associated with a DYRK1A mutation: a 17-year-old female patient with language and cognitive delay, microcephaly, and an autistic disorder, who was operated upon for spleen torsion with anomalous gut fixation.

Published
2023
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