Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study

Abstract Background Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare genetic visceral myopathy, with a historically high mortality rate. Its genetic and phenotypic variability and management options remain poorly characterized. This study correlates genotype with phenotype...

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Detalhes bibliográficos

Principais autores:	Johannes Hilberath, Ilias Tsiflikas, Anna Sanders, Justus Lieber, Tobias Luithle, Tobias B. Haack, Ekkehard Sturm, Jörg Fuchs, Steven Warmann, Christoph Slavetinsky
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-12-01
Colecção:	Orphanet Journal of Rare Diseases
Assuntos:	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Intestinal failure Pediatric intestinal pseudo-obstruction (PIPO) ACTG2 MYH11 MYLK
Acesso em linha:	https://doi.org/10.1186/s13023-025-04154-9
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