Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome

Abstract PTEN hamartoma tumor syndrome (PHTS), caused by germline PTEN variants, exhibits marked phenotypic heterogeneity, most notably cancer, neurodevelopmental disorders (NDD), or both. The basis for this divergence, even among carriers of identical PTEN variants, remains poorly defined. We perfo...

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Principais autores:	Lamis Yehia, Lin Li, Gideon Idumah, Thomas W. Frazier, Vladimir Makarov, Aritra Bose, Laxmi Parida, Antonio Hardan, Julian A. Martinez-Agosto, David M. Ritter, Mustafa Sahin, Charis Eng, Ying Ni, On behalf of the Developmental Synaptopathies Consortium
Format:	Artigo
Jezik:	Inglês
Izdano:	Nature Portfolio 2026-03-01
Serija:	npj Genomic Medicine
Online dostop:	https://doi.org/10.1038/s41525-026-00556-1
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