CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

Autism spectrum disorder (ASD) and intellectual disability (ID) are often comorbid, but the extent to which they share common genetic causes remains controversial. Here, we present two autosomal-recessive “founder” mutations in the CC2D1A gene causing fully penetrant cognitive phenotypes, including...

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Bibliographic Details
Main Authors: M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira E. Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra Laurent, Zohair A. Nanjiani, Saima Rasheed, R. Sean Hill, Sofia B. Lizarraga, Danielle Gleason, Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh
Format: Article
Language:English
Published: Elsevier 2014-08-01
Series:Cell Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124714005233

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