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
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M et al.
American Journal of Human Genetics, 2024
38387458 (PubMed )
Supplement: mmc3.xlsx › Foglio1
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants.
Xu N et al.
Frontiers in Genetics, 2023
The 3M complex maintains microtubule and genome integrity.
Yan J et al.
Molecular Cell, 2014
Clinical utility gene card for: 3-M syndrome - update 2013.
Holder-Espinasse M et al.
European Journal of Human Genetics : Ejhg, 2014
3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.
Al-Dosari MS et al.
The Journal of Pediatrics, 2012
Clinical utility gene card for: 3M syndrome.
Holder-Espinasse M et al.
European Journal of Human Genetics : Ejhg, 2011
The 3M syndrome.
Huber C et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber C et al.
European Journal of Human Genetics : Ejhg, 2009
Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.
Maksimova N et al.
Journal of Medical Genetics, 2007
Identification of mutations in CUL7 in 3-M syndrome.
Huber C et al.
Nature Genetics, 2005
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