Article
Whole exome sequencing for diagnosis of hereditary thrombocytopenia.
Medicine - 20 Nov 2020
Mekchay Ponthip, Ittiwut Chupong, Ittiwut Rungnapa, Akkawat Benjaporn, Le Grand Supang Maneesri, Leela-Adisorn Netchanok, Muanpetch Suwanna, Khovidhunkit Weerapan, Sosothikul Darintr, Shotelersuk Vorasuk, Suphapeetiporn Kanya, Rojnuckarin Ponlapat
Abstract excerpt
Hereditary thrombocytopenia comprises extremely diverse diseases that are difficult to diagnose by phenotypes alone. Definite diagnoses are helpful for patient (Pt) management.To evaluate the role of whole exome sequencing (WES) in these Pts.Cases with unexplained long-standing thrombocytopenia and/or suggestive features were enrolled to the observational study. Bleeding scores and blood smear were evaluated. The...
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