177 SHANKs were first implicated in ASD by studies on PhelanMcDermid syndrome, 200,201 a neurodevelopmental disorder caused by 22q13.3 deletion, and are deleted in almost all reported PhelanMcDermid syndrome cases
Of note, in the tendon studies (Chang et al., 2011
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doi:10.1016/0753-3322(94)90138-4