A De Novo Variant in Calponin2 Causes Intestinal Pseudo-obstruction: Evidence from Patient and Mouse Model

Abstract

Pediatric intestinal pseudo-obstruction (PIPO) is a severe gastrointestinal motility disorder with considerable genetic heterogeneity. Nevertheless, genetic etiology in a substantial proportion of the patients remains unknown. This study aimed to identify the underlying genetic cause in a child with unexplained PIPO and to establish a novel disease gene associated with this condition.

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