CUL4B

Publications

Badura-Stronka M et al. A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. Clin Genet. 2010 Feb;77(2):141-4. doi: 10.1111/j.1399-0004.2009.01331.x. PMID: 20002452.

Cabezas DA et al. A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. J Med Genet. 2000; 37:663-668, 10.1136/jmg.37.9.663

Della Vecchia S et al. CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature. Seizure. 2023;104:32-37. doi: 10.1016/j.seizure.2022.11.014. PMID: 36476360.

López M et al. A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data. Clin Case Rep. 2020;8(12):3184-3188. doi: 10.1002/ccr3.3381. PMID: 33363903.

Majer F et al. Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. Am J Med Genet A. 2020;182(1):219-223. doi: 10.1002/ajmg.a.61416. PMID: 31729179.

Nakamura Y et al. A novel CUL4B splice site variant in a young male exhibiting less pronounced features. Hum Genome Var. 2019;6:43. doi: 10.1038/s41439-019-0074-6. eCollection 2019. PMID: 31645981.

Okamoto N et al. Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection. Hum Genome Var. 2017;4:16045. doi: 10.1038/hgv.2016.45. PMID: 28144446.

Vulto-van Silfhout AT et al. Variants in CUL4B are associated with cerebral malformations. Hum Mutat. 2015;36(1):106-17. doi: 10.1002/humu.22718. PMID: 25385192.

Weissbach S et al. A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am J Med Genet A. 2017;173(10):2803-2807. doi: 10.1002/ajmg.a.38390. Epub 2017 Aug 17. PMID: 28817236.