The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

Elizabeth A. Varga, MS, Matthew Pastore, MS, Thomas Prior, PhD, Gail E. Herman, MD, PhD, and Kim L. McBride, MD, MS

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The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
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The PTEN Hamartoma Tumor Syndrome Foundation was founded to find treatments or therapies for PTEN Syndromes by funding research, providing PHTS education, supporting patients, and by raising awareness. PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome.

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