Alison A. Bertuch

Oct 27, 2024 | onlinelibrary.wiley.com | Sharon A. Savage |Alison A. Bertuch

Rare germline pathogenic variants (GPVs) in genes essential for telomere length maintenance (TLM) and function cause a broad spectrum of disorders. The biological consequences of these GPVs range from short or dysfunctional telomeres and reduced cellular replicative potential to long telomeres and increased cellular replicative capacity.