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
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
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.
Eto K et al.
Human Genome Variation, 2022
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
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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