Clinical Utility of Telomere Length-Directed Genomic Assessment in Patients with Short Telomere Syndromes
Abstract
Introduction: Short telomere syndromes (STS) are accelerated aging syndromes affecting hematopoietic, pulmonary, hepatobiliary and/or immunological systems. Clinical assessment of age-appropriate telomere length (TL) is performed using flow cytometry & fluorescence in-situ hybridization (flowFISH). Screening for germline variants in STS-related genes is guided by flowFISH-determined centile categories of TL, with screening recommended for TL...
Paper Details
Title
Clinical Utility of Telomere Length-Directed Genomic Assessment in Patients with Short Telomere Syndromes
Published Date
Nov 13, 2019
Journal
Volume
134
Issue
Supplement_1
Pages
1222 - 1222
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