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Autism
- ... gene variants have been identified in people with autism spectrum disorder (ASD), a varied condition characterized by ... Sestan N, Walsh CA. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. ...
- ... people with MAND also have features similar to autism spectrum disorder, a developmental condition that affects communication ... 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan; ...
- ... gene mutations have been identified in people with autism spectrum disorder (ASD), a varied condition characterized by ... de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun. 2014 Nov 24;5:5595. ...
- ... of neurological problems, including intellectual disability, seizures, and autism spectrum disorder. Unlike variants involved in Angelman syndrome, ... PubMed Louros SR, Osterweil EK. Perturbed proteostasis in autism spectrum disorders. J Neurochem. 2016 Dec;139(6): ...
- ... Many also have brain abnormalities and features of autism spectrum disorders, which are characterized by impaired communication ... FD. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Dev Cell. ...
- ... Gtf2i duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder. Brain Behav. 2017 Dec 19;8( ... Williams Syndrome, leads to increases in social interactions. Autism Res. 2011 Feb;4(1):28-39. doi: ...
- ... as intellectual disability and a developmental disorder called autism spectrum disorder that affects communication and social interaction ... Beaudet AL. 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Am J Med Genet ...
- ... gene mutations also have signs and symptoms of autism spectrum disorder, which affects communication and social skills. ... mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. Hum Mol Genet. 2017 ...
- ... function of synapses. MedlinePlus Genetics provides information about Autism spectrum disorder More About This Health Condition The ...
- ... syndrome. These features can include seizures, intellectual disability, autism spectrum disorder, anxiety, and walking difficulty. Individuals with ... dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004 Oct 1;119(1):19-31. ...