Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

The proper development of neuronal circuits during neuromorphogenesis and neuronal-network formation is critically dependent on a coordinated and intricate series of molecular and cellular cues and responses. Although the cortical actin cytoskeleton is known to play a key role in neuromorphogenesis,...

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主要な著者: Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patton, Michael A., Mansour, Sahar, Rich, Phillip, Qualmann, Britta, Hurles, Matt E., Kessels, Michael M., Crosby, Andrew H.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2014
主題:
Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3882725/
https://ncbi.nlm.nih.gov/pubmed/24239382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.10.001
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