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A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-08-12 , DOI: 10.1002/mgg3.1746
Angelina Beer 1 , Ricardo Beck 2, 3 , Anne Schedel 3 , Malte von Bonin 4, 5, 6 , Jörn Meinel 7 , Ulrike Anne Friedrich 3 , Maria Menzel 3 , Meinolf Suttorp 8 , Sebastian Brenner 1 , Guido Fitze 2 , Björn Lange 3 , Ralf Knöfler 3 , Julia Hauer 3, 9, 10 , Franziska Auer 9, 10
Affiliation  

Isolated myelosarcoma of infancy is a rare presentation of acute myelogenous leukaemia (AML). Because of its rarity and early onset in infancy underlying genetic predisposition is potentially relevant in disease initiation.

中文翻译:

导致 G2/M 细胞周期停滞的罕见 PALB2 种系变异与婴儿期孤立性骨髓肉瘤有关

婴儿孤立性骨髓肉瘤是急性髓性白血病 (AML) 的罕见表现。由于其罕见且在婴儿期早期发病,潜在的遗传易感性可能与疾病的发生有关。
更新日期:2021-09-23
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