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Article Abstract
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883527 | PMC |
| http://dx.doi.org/10.3324/haematol.2021.279689 | DOI Listing |
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Article Synopsis
- - The study highlights the complexity of hereditary thrombocytopenia, emphasizing that diagnosing these diverse diseases based solely on symptoms (phenotypes) is challenging, and underscores the value of whole exome sequencing (WES) in improving patient management.
- - Seven female patients with long-standing unexplained thrombocytopenia participated, with clinical features including macrothrombocytopenia and, for some, bleeding issues; WES was effective in identifying 11 specific mutant alleles, including some not previously documented.
- - The results showcase the ability of WES to uncover genetic mutations associated with macrothrombocytopenia, enhancing the understanding of the disease and aiding in future correlations between genetic changes and clinical manifestations.