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
Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices.
Bruce L et al.
American Journal of Medical Genetics. Part A, 2022
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
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
Yoshida M et al.
Clinical Genetics, 2018
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