Associated Papers
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M et al.
Hgg Advances, 2026
40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S1
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
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.
Eto K et al.
Human Genome Variation, 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
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
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