Associated Papers
A novel heterozygous mutation of BCL11B gene causes neurodevelopmental disorder and middle type hypospadias in a Chinese boy with 5 years follow-up.
Liu Y et al.
Neurogenetics, 2026
Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.
Xu J et al.
Bmc Medical Genomics, 2025
BCL11B-related disease: a single phenotypic entity?
Vedovato-Dos-Santos JH et al.
European Journal of Human Genetics : Ejhg, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Lessel I et al.
American Journal of Human Genetics, 2025
39798569 (PubMed )
Supplement: mmc2.xlsx › Tabelle1
BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia.
Garone G et al.
Movement Disorders Clinical Practice, 2024
Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective.
García-Aznar JM et al.
Genes and Immunity, 2024
A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report.
Yu Y et al.
Molecular Genetics & Genomic Medicine, 2023
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.
Eto K et al.
Human Genome Variation, 2022
Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay.
Zhao X et al.
Frontiers in Pediatrics, 2022
Genetic analysis of neurodevelopmental disorders in children.
Wu D et al.
Frontiers in Child and Adolescent Psychiatry, 2022
Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities.
Yang S et al.
Frontiers in Pediatrics, 2020
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