A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia

• Main Authors: Jianling Cai (Author), Tianming Liu (Author), Yuxuan Huang (Author), Hongxing Chen (Author), Meidie Yu (Author), Dongqing Zhang (Author), Zhanqin Huang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundCongenital sideroblastic anemia (CSA) constitutes a group of inherited erythropoietic disorders. Some affect mainly or exclusively erythroid cells; other syndromic forms occur within multisystem disorders with extensive nonhematopoietic manifestations. In this study, we have performed clin...