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Article

The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome.

HGG advances - 13 Jul 2023

Wei Ruipeng, Yehia Lamis, Ni Ying, Eng Charis

Abstract excerpt

Cancer and autism spectrum disorder/developmental delay (ASD/DD) are two common clinical phenotypes in individuals with germline PTEN variants (PTEN hamartoma tumor syndrome, PHTS). Burgeoning studies have shown that genomic and metabolomic factors may act as modifiers of ASD/DD versus cancer in PHTS. Recently, we showed copy number variations to be associated with ASD/DD versus cancer in these PHTS individuals....

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Share to Autism Spectrum Disorder
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genome, Mitochondrial

Share to Hamartoma Syndrome, Multiple

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Source

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Identifiers

PMID: 37216009
DOI: 10.1016/j.xhgg.2023.100199
PMCID: PMC10193119

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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