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- W4386151567 abstract "Kabuki syndrome (KS) is a rare multisystem-affecting genetic disorder, and usually accompanied with autoimmune disorders such as immune thrombocytopenic purpura (ITP). Here, we report a 16-year-old patient with Kabuki syndrome with ITP and observe the therapeutic effect of TPO agonist hetrombopag olamine tablets. The duration of maintenance therapy and follow up were both 17 months. Whole exon sequencing (WES) of the patient’s peripheral blood showed c.5775_5778del (p. Leu1926LysfsTer120) heterozygous mutation in the KMT2D gene, which was not reported before." @default.
- W4386151567 created "2023-08-26" @default.
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- W4386151567 date "2023-08-24" @default.
- W4386151567 modified "2023-09-25" @default.
- W4386151567 title "Treatment of immune thrombocytopenia with hetrombopag olamine tablets in a Kabuki syndrome patient with new KMT2D mutations" @default.
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- W4386151567 doi "https://doi.org/10.1080/09537104.2023.2249562" @default.
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