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Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.

Fetal and pediatric pathology - 1 Apr 2018

Korğalı Elif Ünver, Yavuz Amine, Şimşek Cemile Ece Çağlar, Güney Cengiz, Kurtulgan Hande Küçük, Başer Burak, Atalar Mehmet Haydar, Özer Hatice, Eğilmez Hatice Reyhan

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29608093
DOI: 10.1080/15513815.2018.1445149

Genes

ACTG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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