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Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1-Related Fanconi Anemia.
The Neurologist ( IF 1.2 ) Pub Date : 2023-07-07 , DOI: 10.1097/nrl.0000000000000511
Nabeela Nathoo 1 , Ralitza H Gavrilova 1, 2 , Jorge A Trejo-Lopez 3 , Patrick W McGarrah 4 , Ronald S Go 4 , Abdulradha Alqallaf 5 , W Oliver Tobin 1, 6
Affiliation  

Fanconi anemia (FA) is an inherited condition associated with genetic mutations that affect DNA repair proteins. More than 20 genes involved in the FA/BRCA pathway have been implicated in FA, including BRIP1. Tumefactive brain lesions are rare in FA.

中文翻译:

BRIP1 相关范可尼贫血导致的复发性中枢神经系统肿瘤性病变。

范可尼贫血 (FA) 是一种与影响 DNA 修复蛋白的基因突变相关的遗传性疾病。超过 20 个参与 FA/BRCA 途径的基因与 FA 相关,其中包括 BRIP1。肿胀性脑损伤在 FA 中很少见。
更新日期:2023-07-07
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