autosomal dominant macrothrombocytopenia TUBB1-related (Q30990007)
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A thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has material basis in mutation in the TUBB1 gene on chromosome 20q13.3.
- MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal dominant macrothrombocytopenia TUBB1-related |
A thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has material basis in mutation in the TUBB1 gene on chromosome 20q13.3. |
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