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
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Lessel I et al.
American Journal of Human Genetics, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
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 Bcl11bN797K variant isolated from an immunodeficient patient inhibits early thymocyte development in mice.
Matsumoto K et al.
Frontiers in Immunology, 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
The Majority of the Serine/Threonine Phosphorylation Sites in Bcl11b Protein Are Dispensable for the Differentiation of T Cells.
Okuyama K et al.
Journal of Immunology (baltimore, Md. : 1950), 2023
A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report.
Yu Y et al.
Molecular Genetics & Genomic Medicine, 2023
Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder.
Alfei E et al.
Neuropediatrics, 2022
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK et al.
The Journal of Allergy and Clinical Immunology, 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
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
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
Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities.
Yang S et al.
Frontiers in Pediatrics, 2020
A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.
Qiao F et al.
Molecular Genetics & Genomic Medicine, 2019
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Lessel D et al.
Brain : a Journal of Neurology, 2018