Associated Papers
Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study.
Hilberath J et al.
Orphanet Journal of Rare Diseases, 2025
Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
Wei X et al.
Bmc Medical Genomics, 2024
38773466 (PubMed )
Supplement: 12920_2024_1908_MOESM2_ESM.xlsx › MYH11_hg19
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Billon C et al.
Molecular Genetics and Genomics : Mgg, 2024
Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report.
Finsterer J et al.
Cureus, 2023
Pseudoileus caused by primary visceral myopathy in a Han Chinese patient with a rare MYH11 mutation: A case report.
Li N et al.
World Journal of Clinical Cases, 2022
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.
Wang Q et al.
Journal of Human Genetics, 2019
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
Kloth K et al.
Clinical Genetics, 2019
Histopathological, Ultrastructural, and Immunohistochemical Findings in MYH11-Variant Visceral Myopathy.
Kapur RP
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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