A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature

A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature

Abstract Background Mutations in the MECOM gene have been recognized as a causative factor in MECOM-associated syndrome, which encompasses a spectrum of hematologic and extra-hematologic manifestations. Hematologic features range from isolated thrombocytopenia to severe bone marrow failure, while ex...

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Bibliographic Details
Main Authors: Jiaxin Li, Ting Peng, Guoqiang Cheng, Lin Yang, Jianguo Zhou, Rong Zhang, Peng Zhang
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Journal of Medical Case Reports
Subjects:
MECOM gene
Thrombocytopenia
Gene variant
Radioulnar synostosis
Case report
Online Access:https://doi.org/10.1186/s13256-025-05194-2
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