A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia

• Những tác giả chính: Duowen Huang (Tác giả), Mingyan Jiang (Tác giả), Yiping Zhu (Tác giả), Dongjun Li (Tác giả), Xiaoxi Lu (Tác giả), Ju Gao (Tác giả)
• Định dạng: Sách
• Được phát hành: BMC, 2024-01-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: Connect to this object online.

Abstract Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) type 2, caused by MDS1 and EVI1 complex locus (MECOM) gene mutations, is a rare inherited bone marrow failure syndrome (IBMFS) with skeletal anomalies, characterized by varying presentation of congenital thrombocytopenia (p...