Article

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

2021-09-15

Abstract excerpt

<h4>Purpose</h4> Heterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD. <h4>Methods</h4> We performed an in-depth analysis of 42 patients with BCL11A-IDD ascertained through a collaborative network of clinical and research colleagues. We...

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Literature Corpus work: b026f7c3-7bc1-5a8f-93a9-057ade283b49
DOI: 10.1101/2021.09.06.21262776

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