Article
Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism.
Molecular autism - 28 Jan 2021
Frazier Thomas W, Jaini Ritika, Busch Robyn M, Wolf Matthew, Sadler Tammy, Klaas Patricia, Hardan Antonio Y, Martinez-Agosto Julian A, Sahin Mustafa, Eng Charis
Abstract excerpt
BACKGROUND: PTEN is a well-established risk gene for autism spectrum disorder (ASD). Yet, little is known about how PTEN mutations and associated molecular processes influence neurobehavioral function in mutation carriers with (PTEN-ASD) and without ASD (PTEN no-ASD). The primary aim of the present study was to examine group differences in peripheral blood-derived PTEN pathway protein levels between PTEN-ASD,...
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