Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

MONDO:0014758

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.

Also known as: MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome, RUSAT2, radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM, radioulnar synostosis with amegakaryocytic thrombocytopenia 2, radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2, radioulnar synostosis with amegakaryocytic thrombocytopenia type 2

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