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

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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Bibliographic Details
Main Authors: Duowen Huang, Mingyan Jiang, Yiping Zhu, Dongjun Li, Xiaoxi Lu, Ju Gao
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Pediatrics
Subjects:
Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT)
MDS1 and EVI1 complex locus (MECOM) gene mutations
Whole-exome sequencing (WES)
Hematopoetic stem cell transplantation
Online Access:https://doi.org/10.1186/s12887-024-04552-1

Internet

https://doi.org/10.1186/s12887-024-04552-1

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