Associated Papers
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
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
Soblet J et al.
American Journal of Medical Genetics. Part A, 2018
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