Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies

• Main Authors: Daijing Nie (Author), Jing Zhang (Author), Fang Wang (Author), Wei Zhang (Author), Lili Liu (Author), Xue Chen (Author), Yang Zhang (Author), Panxiang Cao (Author), Min Xiong (Author), Tong Wang (Author), Ping Wu (Author), Xiaoli Ma (Author), Wenjun Tian (Author), Mangju Wang (Author), Kylan N. Chen (Author), Hongxing Liu (Author)
• פורמט: ספר
• יצא לאור: BMC, 2020-06-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Fanconi anemia (FA) is the most common inherited bone marrow failure (BMF) syndrome with 22 related genes identified. The ALDH2 rs671variant has been proved related to accelerate the progression of BMF in FA patients. The phenotype and genetic basis of Chinese FA patients have no...