Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease

Marja Hakkarainen,Suvi P.M. Douglas,Tom Vulliamy,Inderjeet Dokal,Jean Soulier,Lise Larcher,Riitta Niinimäki,Timo Siitonen,Eva Hellstrom Lindberg,Gisela Barbany,Bianca Tesi,Amir Asher Kuperman,Hannah Tamary,Sharon Jackson,Outi Kilpivaara,Ulla Wartiovaara-Kautto

Blood（2021）

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摘要

Biallelic mutations in ERCC6L2 were first reported to cause bone marrow failure (BMF). Additionally, we recently described a strong predisposition to erythroid lineage-restricted acute myeloid leukemia (AML-M6). Today, 31 ERCC6L2-mutated cases have been reported. This study aims to further explore the clinical and molecular features, as well as outcomes, of the ERCC6L2 patients.

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