Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report.

Hall MJ, Kim DW, Namjoshi D, McSweeny M, Richardson ME, Marsh AP, Hernandez F, Dedousis D

DOI: 10.3389/fonc.2025.1679432
Published: 2025
Container: Frontiers in oncology
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.3389/fonc.2025.1679432,
  title = {Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report.},
  author = {Hall MJ and Kim DW and Namjoshi D and McSweeny M and Richardson ME and Marsh AP and Hernandez F and Dedousis D},
  year = {2025},
  journal = {Frontiers in oncology},
  doi = {10.3389/fonc.2025.1679432},
  url = {https://doi.org/10.3389/fonc.2025.1679432}
}

RIS

TY  - JOUR
TI  - Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report.
AU  - Hall MJ
AU  - Kim DW
AU  - Namjoshi D
AU  - McSweeny M
AU  - Richardson ME
AU  - Marsh AP
AU  - Hernandez F
AU  - Dedousis D
PY  - 2025
JO  - Frontiers in oncology
DO  - 10.3389/fonc.2025.1679432
UR  - https://doi.org/10.3389/fonc.2025.1679432
ER  -

APA

MJ, H., DW, K., D, N., M, M., ME, R., AP, M., F, H., & D, D. (2025). Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report.. Frontiers in oncology. https://doi.org/10.3389/fonc.2025.1679432

Source records

pubmed · retrieved 2026-09-25T12:47:39.137Z