Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency
Abstract
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 heterozygous variant, c.1453G>T, in...
Paper Details
Title
Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency
Published Date
May 3, 2021
Journal
Volume
5
Issue
9
Pages
2339 - 2349
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