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Article

Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3.

Human genomics - 21 Apr 2025

Mei Lianni, Hu Chunchun, Jin Guangbo, Ge Chuanhui, Zhu Yiting, Li Dongyun, Peng Wenzhu, Li Huiping, Xu Xiu, Jiang Yan, Xu Guoliang, Xu Qiong

Abstract excerpt

Neurodevelopmental disorders (NDDs) pose significant challenges due to their impact on cognitive, social and motor abilities, often rooted in genetic factors such as copy number variations (CNVs) and single nucleotide variantions (SNVs). Molecular genetic testing, advanced due to sequencing technologies, is instrumental in diagnosing NDDs, with twins offering unique perspectives in detecting novel de novo CNVs...

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Identifiers

PMID: 40259394
DOI: 10.1186/s40246-025-00748-3
PMCID: PMC12013076

Genes

TET3
TET2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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