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Avatrombopag improves thrombocytopenia in MYH9-related disorder following eltrombopag treatment failure.

Platelets - 17 Nov 2022

Arif Abdul Rehman, Zhao Miaomiao, Chen Wenlan, Xue Mei, Luo Shanshan, Wang Yadan

Abstract excerpt

MYH9-related disorder (MYH9-RD) is autosomal dominant thrombocytopenia caused by mutations in the MYH9 gene, which codes for the non-muscle myosin-IIA heavy chain. We present a case of a 24-year-old Chinese man with MYH9-RD who was initially misdiagnosed with immune thrombocytopenia. Whole-exome sequencing and Sanger sequencing revealed a novel missense mutation in the MYH9 gene at the position of c.4550 G > T...

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PMID: 35791514
DOI: 10.1080/09537104.2022.2096211

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