Article
Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.
Blood advances - 11 May 2021
Wessels Marja W, Cnossen Marjon H, van Dijk Thamar B, Gillemans Nynke, Schmidt K L Juliëtte, van Lom Kirsten, Vinjamur Divya S, Coyne Steven, Kurita Ryo, Nakamura Yukio, de Man Stella A, Pfundt Rolph, Azmani Zakia, Brouwer Rutger W W, Bauer Daniel E, van den Hout Mirjam C G N, van IJcken Wilfred F J, Philipsen Sjaak
Abstract excerpt
The BCL11A gene encodes a transcriptional repressor with essential functions in multiple tissues during human development. Haploinsufficiency for BCL11A causes Dias-Logan syndrome (OMIM 617101), an intellectual developmental disorder with hereditary persistence of fetal hemoglobin (HPFH). Due to the severe phenotype, disease-causing variants in BCL11A occur de novo. We describe a patient with a de novo...
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