A Military Veteran with Pulmonary Fibrosis, Hepatic Cirrhosis, Bone Marrow Dysfunction and Shortened Telomeres Found to Have GAVE, a Potential Unsuspected Consequence of Telomere Spectrum Disorder

Abstract

Background: Telomeres are repetitive DNA sequences at chromosome ends that maintain genomic stability and shorten with age. Mutations in genes such as DKC1, TERC, TERT, NOP10, TINF2 and NHP2 cause Telomere Spectrum Disorders (TSD), leading to shortened telomeres.

The paper