Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
Paul GuéguenArnaud DupuisJean-Yves PyAurore DesprèsEmmanuelle MassonCédric Le MarechalDavid N CooperChristian GachetJian-Min ChenClaude FérecPublished in: Transfusion (2020)
We present the results of gene panel sequencing of known and candidate thrombocytopenia genes in mild isolated nonsyndromic thrombocytopenia. Pathogenic and likely pathogenic variants in five known thrombocytopenia genes were identified, accounting for approximately 3% of individuals with the condition.