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
39798569 (PubMed )
Supplement: mmc2.xlsx › Tabelle1
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.
Eto K et al.
Human Genome Variation, 2022
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