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Disease progression and clinical outcomes in telomere biology disorders

1 Dec 2021

Abstract excerpt

Dyskeratosis congenita related telomere biology disorders (DC/TBDs) are characterized by very short telomeres caused by germline pathogenic variants in telomere biology genes. Clinical presentations can affect all organs, and inheritance patterns include autosomal dominant (AD), autosomal recessive (AR), X-linked (XLR), or de novo. This study examined the associations between mode of inheritance with phenotypes...

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PMID: 34852175
DOI: 10.1182/blood.2021013523

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