Case Report: MYH9-related disease caused by Ala44Pro mutation in a child with a previous diagnosis of chronic immune thrombocytopenia

• Main Authors: Kaori Niwa (Author), Hidemi Toyoda (Author), Atsushi Kohso (Author), Yosuke Okumura (Author), Shinji Kunishima (Author), Masahiro Hirayama (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

MYH9-related disease, a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, may mimic immune thrombocytopenia in children unless suspected and carefully excluded. Here, we present a case involving a three-year-old girl with mi...