Blood
Somatic genetic rescue in ZCCHC8-associated telomere biology disorders
By Sophie de Tocqueville, Flávia S. Donaires, Nicholas F. DeCleene, Show 25 more authorsPatrick Revy
Study in peopleMechanisms
Abstract
We show that somatic genetic rescue is frequent in telomere biology disorders (TBDs) caused by germ line ZCCHC8 variants. Our results highlight the critical intrinsic role of ZCCHC8 in human hematopoiesis and a potential mechanism for disease modification in TBDs.
