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
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_MOESM6_ESM.pdf
[Clinical characteristics of four children with 3M syndrome and a literature review].
Xu N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants.
Xu N et al.
Frontiers in Genetics, 2023
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development.
Wang P et al.
The Journal of Clinical Investigation, 2019
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo H et al.
Molecular Autism, 2018
30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › LGD
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
27824329 (PubMed )
Supplement: ncomms13316-s5.xlsx › Supplementary_Data_4
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
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
Identification of mutations in CUL7 in 3-M syndrome.
Huber C et al.
Nature Genetics, 2005
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