Ontology highlight
ABSTRACT:
SUBMITTER: Huang D
PROVIDER: S-EPMC10799460 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
Huang Duowen D Jiang Mingyan M Zhu Yiping Y Li Dongjun D Lu Xiaoxi X Gao Ju J
BMC pediatrics 20240120 1
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 (progressing to pancytopenia), bilateral proximal radioulnar synostosis, and other skeletal abnormalities. Due to limited knowledge and heterogenous manifestations, clinical diagnosis of the disease is challengi ...[more]