A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome.

Abstract excerpt

Pathogenic genetic variants in telomere maintenance genes can lead to accelerated telomere length (TL) shortening. Individuals can pass on significantly shortened TL to their offspring, with or without transmission of the causal genetic variant. Carriers and their progeny are at increased risk for disease in organ systems with high life-time replicative demand, including bone marrow, lungs, and liver. The...

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