Loss of Function in RBBP5 Results in a Syndromic Neurodevelopmental Disorder Associated with Microcephaly
Yue Huang,Kristy L. Jay,Alden Yen-Wen Huang,Jijun Wan,Sharayu V. Jangam,Odelia Chorin,Annick Rothschild,Ortal Barel,Milena Mariani,Maria Iascone,Han Xue, Jing Huang, Cyril Mignot, Boris Keren, Virginie Saillour, Annelise Y. Mah-Som, Stephanie Sacharow, Farrah Rajabi, Carrie Costin, Shinya Yamamoto, Oguz Kanca, Hugo J. Bellen, Jill A. Rosenfeld, Christina G. S. Palmer, Stanley F. Nelson, Michael F. Wangler, Julian A. Martinez-Agosto GENETICS IN MEDICINE（2024）
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Epigenetic,H3K4 methylation,Microcephaly,Neurodevelopmental disorder,RBBP5
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