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Article

Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes.

Molecular genetics & genomic medicine - 1 Jun 2026

Yu Jiahui, Zhang Yan, Shen Wenlong, Ying Jun, Li Huanzheng, Tang Xiaohua, He Xujun

Abstract excerpt

OBJECTIVE: Uniparental disomy of chromosome 6, typically paternal in origin (UPD6pat), results in significant phenotypic variability across different cases. This study integrates transcriptome-wide profiling of amniotic fluid cell-free RNA (cfRNA) with molecular diagnostics to elucidate the gene expression landscape and pathway dysregulation in two phenotypically distinct UPD6pat cases. METHODS: RNA sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42260905
DOI: 10.1002/mgg3.70241
PMCID: PMC13247139

Genes

CHD7
EP300

Provenance

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

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