Associated Papers
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
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
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
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