Macrothrombocytopenia, isolated, 1, autosomal dominant

MONDO:0800047

Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.

Also known as: MACTHC1, TUBB1 autosomal dominant macrothrombocytopenia, autosomal dominant macrothrombocytopenia caused by mutation in TUBB1, macrothrombocytopenia, autosomal dominant, TUBB1-related, autosomal dominant macrothrombocytopenia TUBB1-related

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