A rare de novo RAI1 gene mutation affecting BDNF-enhancer-driven transcription activity associated with autism and atypical smith-magenis syndrome presentation

Clemer Abad, Melissa M. Cook, Lei Cao, Julie R. Jones, Nalini R. Rao, Lynn Dukes-Rimsky, Rini Pauly, Cindy Skinner, Yunsheng Wang, Feng Luo, Roger E. Stevenson, Katherina Walz, Anand K. Srivastava

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