A novel thrombocytopenia‐4‐causing CYCS gene variant decreases caspase activity: Three‐generation study

Abstract excerpt

The CYCS gene is highly evolutionarily conserved, with only a few pathogenic variants that cause thrombocytopenia-4 (THC4). Here, we report a novel CYCS variant NM_018947.6: c.59C>T [NP_061820.1:p.(Thr20Ile)] segregating with thrombocytopenia in three generations of a Czech family. The phenotype of the patients corresponds to THC4 with platelets of normal size and morphology and dominant inheritance....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Complement system in diseases
• Share to Platelet Disorders and Treatments