A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia
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...
| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
BMC
2024-01-01
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| coleção: | BMC Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s12887-024-04552-1 |