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...

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Autori principali:	Duowen Huang, Mingyan Jiang, Yiping Zhu, Dongjun Li, Xiaoxi Lu, Ju Gao
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2024-01-01
Serie:	BMC Pediatrics
Soggetti:	Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) MDS1 and EVI1 complex locus (MECOM) gene mutations Whole-exome sequencing (WES) Hematopoetic stem cell transplantation
Accesso online:	https://doi.org/10.1186/s12887-024-04552-1
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