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

• Autori principali: Duowen Huang (Autore), Mingyan Jiang (Autore), Yiping Zhu (Autore), Dongjun Li (Autore), Xiaoxi Lu (Autore), Ju Gao (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2024-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...