Associated Papers
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A et al.
European Journal of Human Genetics : Ejhg, 2025
39448799 (PubMed )
Supplement: 41431_2024_1701_MOESM2_ESM.xlsx › Supplementary_Table_1
Dias-Logan syndrome with a de novo p.Leu360Profs*212 heterozygous pathogenic variant of BCL11A in a Chinese patient: A case report.
Shu Y et al.
Sage Open Medical Case Reports, 2025
Identification of novel BCL11A variant in a patient with developmental delay and behavioural differences.
Zha J et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024
Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing.
Shen Y et al.
Plos Genetics, 2021
34634037 (PubMed )
Supplement: pgen.1009835.s006.xlsx › _Supplementary_x000a_Table_3
A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.
Korenke GC et al.
Molecular Syndromology, 2020
Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.
Meng H et al.
Biomed Research International, 2020
33062672 (PubMed )
Supplement: 2495157.f1.xlsx › Table_S5
Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities.
Cai T et al.
American Journal of Hematology, 2017
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