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 )
Supplement: 41431_2025_1824_MOESM3_ESM.xlsx › Sheet1
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Lessel I et al.
American Journal of Human Genetics, 2025
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
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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 Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation.
Lu HY et al.
Frontiers in Immunology, 2021
2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2018
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