Article
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.
American journal of medical genetics. Part A - 1 Aug 2025
Elsayed Shaymaa, Elmakkawy Gehad A, Abdelrazek Ibrahim M, Fawzy Dina A, Kim JiHye, Song YongJun, Omar Omneya M, Abdalla Ebtesam M
Abstract excerpt
3M syndrome is a rare autosomal recessive disorder characterized by short stature and recognizable facial and musculoskeletal features. Pathogenic variants in the CUL7, OBSL1, and CCDC8 genes are implicated in the pathogenesis of 3M syndrome. In this review, we discuss the history, epidemiology, molecular basis, clinical features, and management strategies for 3M syndrome. Moreover, we report on 11 new patients...
Topics
- Humans
- Dwarfism
- Cullin Proteins
- Female
- Male
- Muscle Hypotonia
- Phenotype
- Muscular Atrophy
- Mutation
- Cytoskeletal Proteins
- Extracellular Matrix Proteins