Article
Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder.
Blood advances - 28 Jun 2022
Niaz Aram, Truong Jia, Manoleras Annabel, Fox Lucy C, Blombery Piers, Vasireddy Raja S, Pickett Hilda A, Curtin Julie A, Barbaro Pasquale M, Rodgers Jonathan, Roy John, Riley Lisa G, Holien Jessica K, Cohen Scott B, Bryan Tracy M
Abstract excerpt
Telomere biology disorders (TBDs) are a spectrum of multisystem inherited disorders characterized by bone marrow failure, resulting from mutations in the genes encoding telomerase or other proteins involved in maintaining telomere length and integrity. Pathogenicity of variants in these genes can be hard to evaluate, because TBD mutations show highly variable penetrance and genetic anticipation related to...
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