Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants

Abstract Individuals with germline PTEN variants (PHTS) have increased risks of the seemingly disparate phenotypes of cancer and neurodevelopmental disorders (NDD), including autism spectrum disorder (ASD). Etiology of the phenotypic variability remains elusive. Here, we hypothesized that decreased...

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Bibliographic Details
Main Authors: Adriel Y. Kim, Lamis Yehia, Charis Eng
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00495-3
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