Two patients with MIRAGE syndrome lacking haematological features: Role of somatic second-site reversion SAMD9 mutations

Hirohito Shima, Katrin Koehler, Yumiko Nomura, Kazuhiko Sugimoto, Akira Satoh, Tsutomu Ogata, Maki Fukami, Ramona Jühlen, Markus Schuelke, Klaus Mohnike, Angela Huebner, Satoshi Narumi

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30 Citations (Scopus)

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Medicine & Life Sciences