Diagnostic limitations of routine low-coverage CNV-seq in detecting mosaic paternal uniparental disomy in Beckwith-Wiedemann syndrome: a case report

Mengmeng Li, Lei Luo, Jianan Jiao, Yaying Cheng

Open source

DOI: 10.3389/fmed.2026.1900996
Published: 2026-09-08
Container: Frontiers in Medicine
Publisher: Frontiers Media SA
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.3389/fmed.2026.1900996,
  title = {Diagnostic limitations of routine low-coverage CNV-seq in detecting mosaic paternal uniparental disomy in Beckwith-Wiedemann syndrome: a case report},
  author = {Mengmeng Li and Lei Luo and Jianan Jiao and Yaying Cheng},
  year = {2026},
  journal = {Frontiers in Medicine},
  doi = {10.3389/fmed.2026.1900996},
  url = {https://doi.org/10.3389/fmed.2026.1900996}
}

RIS

TY  - JOUR
TI  - Diagnostic limitations of routine low-coverage CNV-seq in detecting mosaic paternal uniparental disomy in Beckwith-Wiedemann syndrome: a case report
AU  - Mengmeng Li
AU  - Lei Luo
AU  - Jianan Jiao
AU  - Yaying Cheng
PY  - 2026
JO  - Frontiers in Medicine
DO  - 10.3389/fmed.2026.1900996
UR  - https://doi.org/10.3389/fmed.2026.1900996
ER  -

APA

Li, M., Luo, L., Jiao, J., & Cheng, Y. (2026). Diagnostic limitations of routine low-coverage CNV-seq in detecting mosaic paternal uniparental disomy in Beckwith-Wiedemann syndrome: a case report. Frontiers in Medicine. https://doi.org/10.3389/fmed.2026.1900996

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crossref · retrieved 2026-09-25T08:39:24.934Z