BCL11A

Publications

Balci TB et al. Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A. Eur J Med Genet. 2015;58(6-7):351-4.  PMID: 25979662.

Basak A et al. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. J Clin Invest. 2015;125(6):2363-8.  PMID: 25938782.

Cai T et al. Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities. Am J Hematol. 2017;92(12):E653-E656.  PMID: 28891213.

Dias C et al. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Am J Hum Genet. 2016;99(2):253-74.  PMID: 27453576.

Funnell AP et al. 2p15-p16.1 microdeletions encompassing and  proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment. Blood. 2015;126(1):89-93.  PMID: 26019277.

Lévy J et al. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome. Am J Med Genet A. 2017;173(8):2081-2087.  PMID: 28573701.

Shimbo H et al. Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome. Mol Genet Genomic Med. 2017;5(4):429-437.  PMID:2871766.

Soblet J et al. BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. Am J Med Genet A. 2018;176(1):201-208.  PMID: 28960836.

Yoshida M et al. Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic  spectrum. Clin Genet. 2018;93(2):368-373.  PMID: 28589569.