Article
Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.
Nature - 3 Dec 2015
Sztainberg Yehezkel, Chen Hong-mei, Swann John W, Hao Shuang, Tang Bin, Wu Zhenyu, Tang Jianrong, Wan Ying-Wooi, Liu Zhandong, Rigo Frank, Zoghbi Huda Y
Abstract excerpt
Copy number variations have been frequently associated with developmental delay, intellectual disability and autism spectrum disorders. MECP2 duplication syndrome is one of the most common genomic rearrangements in males and is characterized by autism, intellectual disability, motor dysfunction, anxiety, epilepsy, recurrent respiratory tract infections and early death. The broad range of deficits caused by...
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