A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant

CONCLUSIONS: In this report, we present a patient with congenital bone marrow failure successfully treated with haploidentic BMT and describe a novel, de novo pathogenic variant in MECOM gene.PMID:36082647 | DOI:10.24953/turkjped.2021.4855

Source: The Turkish Journal of Pediatrics - September 9, 2022 Category: Pediatrics Authors: Burak Delilo ğlu Özlem Tüfekçi Funda T üzün Ay ça Aykut Emine İpek Ceylan Asude Durmaz Şebnem Yılmaz Nuray Duman Hasan Özkan Hale Ören Source Type: research