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Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5

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  1. Article

    Open Access

    Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis

    Kaposiform lymphangiomatosis (KLA) has recently been distinguished as a novel subtype of generalized lymphatic anomaly (GLA) with foci of spindle endothelial cells. All cases of KLA involve multiple organs and...

    Michio Ozeki, Yoko Aoki, Akifumi Nozawa, Shiho Yasue in Orphanet Journal of Rare Diseases (2019)

  2. Article

    Open Access

    The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies

    Lymphatic anomalies (LAs) include several disorders in which abnormal lymphatic tissue invades the neck, chest, and various organs. Progressive cases may result in lethal outcomes and have proven difficult to ...

    Michio Ozeki, Akifumi Nozawa, Shiho Yasue, Saori Endo in Orphanet Journal of Rare Diseases (2019)