Associated Papers
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Engel C et al.
European Journal of Human Genetics : Ejhg, 2025
40562808 (PubMed )
Supplement: 41431_2025_1884_MOESM2_ESM.xlsx › Supp_data_2
Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype.
Priolo M et al.
Genes, 2021
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.
Pinard A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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