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...

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Autors principals:	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
Idioma:	Inglês
Publicat:	Elsevier 2026-01-01
Col·lecció:	HGG Advances
Matèries:	telomerase TERT telomere biology disorder germline variants polygenic telomere length
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2666247725001393
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