Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder.

Abstract excerpt

Germline mutations in PTEN, which encodes a widely expressed phosphatase, was mapped to 10q23 and identified as the susceptibility gene for Cowden syndrome, characterized by macrocephaly and high risks of breast, thyroid, and other cancers. The phenotypic spectrum of PTEN mutations expanded to include autism with macrocephaly only 10 years ago. Neurological studies of patients with PTEN-associated autism spectrum...

Topics

Join the communities discussing this publication.

• Brain
• Autism Spectrum Disorder
• Cell Proliferation
• Disease Models, Animal
• Neurons