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Monogenic Disorders that Mimic the Phenotype of Rett Syndrome

BACKGROUND. 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 mono...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Neurogenetics
मुख्य लेखकों: Srivastava, Siddharth, Desai, Sonal, Cohen, Julie, Smith-Hicks, Constance, Barañano, Kristin, Fatemi, Ali, Naidu, SakkuBai
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2018
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6156085/
https://ncbi.nlm.nih.gov/pubmed/29322350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-017-0535-3
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