SHANK3 as an autism spectrum disorder-associated gene
Abstract
SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density of excitatory synapses, and plays important roles in the formation, maturation, and maintenance of synapses. Haploinsufficiency of the SHANK3 gene causes a developmental disorder, 22q13.3 deletion syndrome (known as Phelan-McDermid syndrome), that is characterized by severe expressive language and speech delay, hypotonia, global developmental delay, and autistic...
Paper Details
Title
SHANK3 as an autism spectrum disorder-associated gene
Published Date
Feb 1, 2013
Journal
Volume
35
Issue
2
Pages
106 - 110
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