" /> Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 - CISMeF





Preferred Label : Radioulnar synostosis with amegakaryocytic thrombocytopenia 1;

Symbol : RUSAT1;

CISMeF acronym : CTRUS; RUSAT; RUSAT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytopenia, congenital, with radioulnar synostosis; CTRUS; RUSAT;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homeobox-A11 gene (HOXA11, 142958.0001);

Laboratory abnormalities : No chromosomal breakage; Normal karyotype;

Prefixed ID : #605432;

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29/07/2025


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