Article
Monogenic disorders that mimic the phenotype of Rett syndrome.
Neurogenetics - 1 Jan 2018
Srivastava Siddharth, Desai Sonal, Cohen Julie, Smith-Hicks Constance, Barañano Kristin, Fatemi Ali, Naidu SakkuBai
Abstract excerpt
Rett syndrome (RTT) is caused by mutations in methyl-CpG-binding protein 2 (MECP2), but defects in a handful of other genes (e.g., CDKL5, FOXG1, MEF2C) can lead to presentations that resemble, but do not completely mirror, classical RTT. In this study, we attempted to identify other monogenic disorders that share features with RTT. We performed a retrospective chart review on n = 319 patients who had undergone...
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