Bi-allelic MCM10 mutations cause telomere shortening with immune dysfunction and cardiomyopathy
Ryan M. Baxley, Wendy Leung, Megan Schmit, Jacob P. Matson, Lulu Yin, Marissa K. Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B. Rogers, Adam J. Harvey, Debashree Basu, Jenny C. Taylor, Alistair T. Pagnamenta, Helene Marie-Pierre Dreau, , Anja‐Katrin Bielinsky
This study identifies bi-allelic MCM10 mutations causing telomere shortening, immune dysfunction, and cardiomyopathy by impairing DNA replication and telomerase activity.
Nature Communications · Mar 12, 2021Peer-reviewedMolecular Biology