Article
Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation.
Fetal and pediatric pathology - 1 Oct 2022
Kalsbeek Alyssa, Dhar-Dass Renee, Hanan Abdul, Al-Haddad Eman, William Iman, Alazraki Adina, Poulik Janet, McCollum Kasey, Almashad Aya, Shehata Bahig M
Abstract excerpt
BACKGROUND: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a lethal congenital disorder characterized by a large, non-obstructed bladder, microcolon, and lack of proper peristalsis. MATERIALS AND METHODS: Five cases of MMIHS were identified, confirmed histologically and were predominantly female (F:M, 4:1). DNA sequencing was also performed. RESULTS: Four cases showed mutations in the α3 and...
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