Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance

Science Advances
Eléonore Toufektchan, Vincent Lejour, Romane Durand, Neelam Giri, Irena Draskovic, Boris Bardot, Pierre Laplante, Sara Jaber, Blanche P. Alter, José-Arturo Londono-Vallejo, Sharon A. Savage, Franck Toledo
DOI
10.1126/sciadv.aay3511
Abstract

We demonstrate a direct link between germline p53 activation and telomere dysfunction.

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