Biallelic Variants in CRIPT Cause a Rothmund-Thomson-like Syndrome with Increased Cellular Senescence
Luisa Averdunk,Maxim A. Huetzen,Daniel Moreno-Andres,Reinhard Kalb,Shane McKee,Tzung-Chien Hsieh,Annette Seibt, Marten Schouwink,Seema Lalani,Eissa Ali Faqeih,Theresa Brunet, Peter Boor,Kornelia Neveling,Alexander Hoischen,Barbara Hildebrandt,Elisabeth Graf,Linchao Lu, Weidong Jin,Joerg Schaper, Jamal A. Omer,Tanguy Demaret,Nicole Fleischer,Detlev Schindler,Peter Krawitz,Ertan Mayatepek,Dagmar Wieczorek,Lisa L. Wang,Wolfram Antonin,Ron D. Jachimowicz,Verena von Felbert,Felix Distelmaier Genetics in Medicine（2023）
关键词
Aging,DNA damage and repair,Mitotic errors,Rothmund-Thomson syndrome,Senescence
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