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

Subjects: “…nuclear receptor binding set domain protein 1 (nsd1)…”
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SETD2 loss-of-function uniquely sensitizes cells to epigenetic targeting of NSD1-directed H3K36 methylation by Ryan T. Wagner, Ryan A. Hlady, Xiaoyu Pan, Liguo Wang, Sungho Kim, Xia Zhao, Louis Y. El Khoury, Shafiq Shaikh, Jian Zhong, Jeong-Heon Lee, Jolanta Grembecka, Tomasz Cierpicki, Thai H. Ho, Keith D. Robertson

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