Article

Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers

2024-02-06

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Bloom Syndrome (BSyn) is an autosomal recessive disorder caused by biallelic germline variants in BLM, which functions to maintain genomic stability. BSyn patients have poor growth, immune defects, insulin resistance, and a significantly increased risk of malignancies, most commonly hematologic. The malignancy risk in carriers of pathogenic variants in BLM ( BLM variant carrie...

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Literature Corpus work: 2a67bee2-378c-5a6d-8425-24504050fa40
DOI: 10.1101/2024.02.02.24302163

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