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Detailed assessment of rare and common TERT variation in a family with a telomere biology disorder

Summary: Telomere biology disorders (TBDs) are caused by rare pathogenic variants in telomere maintenance genes and often present with variable penetrance of multi-organ system manifestations. We evaluated a family with 14 individuals heterozygous for TERT c.2591T>C (p.L864P) and 13 non-carriers. TR...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Logan P. Zeigler, Oscar Florez-Vargas, Burak Altintas, Marena R. Niewisch, Weiyin Zhou, Neelam Giri, Maryam Rafati, Michael Poeschla, Vijay G. Sankaran, Tsung-Po Lai, Abraham Aviv, Kristine Jones, Wen Luo, Jia Liu, Lisa J. McReynolds, Tianna Zhao, Ludmila Prokunina-Olsson, Sharon A. Savage
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2026-01-01
Schriftenreihe:HGG Advances
Schlagworte:
telomerase
TERT
telomere biology disorder
germline variants
polygenic
telomere length
Online-Zugang:http://www.sciencedirect.com/science/article/pii/S2666247725001393
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