CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis
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چکیده
منابع مشابه
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 mild-to-severe ID, ASD, as well as seizures, suggesting shared developmental mechanisms. CC2D1A r...
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ژورنال
عنوان ژورنال: Cell Reports
سال: 2014
ISSN: 2211-1247
DOI: 10.1016/j.celrep.2014.06.039