A study identifies a de novo variant in the CALP2 gene as a cause of intestinal pseudo-obstruction, supported by evidence from both patient data and mouse models. This discovery enhances understanding of the genetic basis of this rare condition.
de novo variant in calponin2 causes intestinal pseudo obstruction evidence from patient and mouse model
Original title: “A De Novo Variant in Calponin2 Causes Intestinal Pseudo-obstruction: Evidence from Patient and Mouse Model.”