Associated Papers
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
Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China.
Liu W et al.
Orphanet Journal of Rare Diseases, 2023
A novel mutation within intron 17 of the CUL7 gene results in appearance of premature termination codon.
Guo L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.
Hu L et al.
Journal of Clinical Laboratory Analysis, 2020
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
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