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Article

Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids.

Molecular psychiatry - 1 Jun 2024

Kang Shin Chung, Sarn Nicholas B, Venegas Juan, Tan Zhibing, Hitomi Masahiro, Eng Charis

Abstract excerpt

PTEN germline mutations account for ~0.2-1% of all autism spectrum disorder (ASD) cases, as well as ~17% of ASD patients with macrocephaly, making it one of the top ASD-associated risk genes. Individuals with germline PTEN mutations receive the molecular diagnosis of PTEN Hamartoma Tumor Syndrome (PHTS), an inherited cancer predisposition syndrome, about 20-23% of whom are diagnosed with ASD. We generated...

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Source

Identifiers

PMID: 38030818
DOI: 10.1038/s41380-023-02325-3

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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