Načítá se...

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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Neurogenetics
Hlavní autoři: Srivastava, Siddharth, Desai, Sonal, Cohen, Julie, Smith-Hicks, Constance, Barañano, Kristin, Fatemi, Ali, Naidu, SakkuBai
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
Témata:
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!