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    Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature

    Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature by Yohei Masunaga, Hiroyuki Ono, Yasuko Fujisawa, Kiyosu Taniguchi, Hirotomo Saitsu, Tsutomu Ogata

    Published 2024-01-01
    Subjects: “…nuclear receptor binding set domain protein 1 (nsd1)…”
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