1 results match your criteria: "e Cumhuriyet University Faculty of Medicine[Affiliation]"
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.
Fetal Pediatr Pathol
April 2018
e Cumhuriyet University Faculty of Medicine, Department of Pathology , Sivas , Turkey.
Introduction: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon. Although the definitive cause remains unknown, changes in the ACTG2 gene are thought to be responsible for the intestinal and bladder hypoperistalsis.
Case Report: This female newborn with MMIHS had a c.