Novel homozygous mutation in the FANCA gene (c.2222G>A) in a Chinese girl of Fanconi anemia

• Main Authors: Wen Xianhao (Author), Qin Hongcheng (Author), Liao Meiling (Author), Guan Xianmin (Author)
• פורמט: ספר
• יצא לאור: Wiley, 2024-03-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Fanconi anemia is the most common inherited bone marrow failure syndrome. Its clinical manifestations include congenital dysplasia, bone marrow hematopoietic failure and tumor susceptibility. At present, there are 23 related gene abnormalities, among which FANCA is the most common. We repor...