Article

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

2023-04-25

Abstract excerpt

<title>Abstract</title><italic>PTEN</italic>germline mutations account for ~ 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<italic>PTEN</italic>mutations receive the molecular diagnosis of PTEN Hamartoma Tumor Syndrome (PHTS), an inherited cancer predisposition syndrome, about 20–23...

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Literature Corpus work: d523e756-3fa8-53d9-89df-af3d121dc015
DOI: 10.21203/rs.3.rs-2787151/v1

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