Associated Papers
3-M syndrome: evolution of the phenotype over time.
Bacchi I et al.
Italian Journal of Pediatrics, 2025
41437277 (PubMed )
Supplement: 13052_2025_2172_MOESM1_ESM.xlsx › S1_CUL7
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_3
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
40596606 (PubMed )
Supplement: 41598_2025_7570_MOESM2_ESM.xlsx › sheet1
3M syndrome with novel CUL7 variants in a Chinese patient: a case report.
Liu H et al.
Frontiers in Pediatrics, 2025
41234413 (PubMed )
Supplement: Table1.xlsx › Table_1
Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development.
Wang P et al.
The Journal of Clinical Investigation, 2019
Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
Hanson D et al.
Journal of Molecular Endocrinology, 2012
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