Building platelet phenotypes: diaphanous-related formin 1 (DIAPH1)-related disorder.
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DOI: 10.1080/09537104.2021.1937593
Abstract: Variants of the Diaphanous-Related Formin 1 (DIAPH-1) gene have recently been reported causing inherited macrothrombocytopenia. The essential/"diagnostic" characteristics associated with the disorder are emerging; however, robust and complete criteria are not established. Here, we report… read more here.
Keywords: related disorder; diaph1 related; disorder; related formin ... See more keywords