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
BCL11B-related disease: a single phenotypic entity?
Vedovato-Dos-Santos JH et al.
European Journal of Human Genetics : Ejhg, 2025
40033098 (PubMed )
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Lessel I et al.
American Journal of Human Genetics, 2025
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
The Role of Bcl11 Transcription Factors in Neurodevelopmental Disorders.
Seigfried FA et al.
Biology, 2024
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.
Pande S et al.
American Journal of Medical Genetics. Part A, 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
Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
Gaillard L et al.
Frontiers in Pediatrics, 2021
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
Goos JAC et al.
Human Molecular Genetics, 2019
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