Prenatal diagnosis of CHARGE syndrome in a fetus with a novel CHD7 splicing mutation: A case report

Elena Papageorgiou, Christina Keramida, Elissavet Siomou, Chrisoula Eustathiadou, Michail Rotas, Chrysanthi Chlapoutaki, Sotirios Sotiriou, Georgios-Konstantinos Papaioannou, Marios Mamalis, Sandro Orru, Emmanouil Manolakos, Ioannis Papoulidis

Open source

DOI
10.3892/etm.2026.13331
Published
2026-10-08
Container
Experimental and Therapeutic Medicine
Publisher
Spandidos Publications
Open access
unknown

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BibTeX

@article{allodium:10.3892/etm.2026.13331,
  title = {Prenatal diagnosis of CHARGE syndrome in a fetus with a novel CHD7 splicing mutation: A case report},
  author = {Elena Papageorgiou and Christina Keramida and Elissavet Siomou and Chrisoula Eustathiadou and Michail Rotas and Chrysanthi Chlapoutaki and Sotirios Sotiriou and Georgios-Konstantinos Papaioannou and Marios Mamalis and Sandro Orru and Emmanouil Manolakos and Ioannis Papoulidis},
  year = {2026},
  journal = {Experimental and Therapeutic Medicine},
  doi = {10.3892/etm.2026.13331},
  url = {https://doi.org/10.3892/etm.2026.13331}
}

RIS

TY  - JOUR
TI  - Prenatal diagnosis of CHARGE syndrome in a fetus with a novel CHD7 splicing mutation: A case report
AU  - Elena Papageorgiou
AU  - Christina Keramida
AU  - Elissavet Siomou
AU  - Chrisoula Eustathiadou
AU  - Michail Rotas
AU  - Chrysanthi Chlapoutaki
AU  - Sotirios Sotiriou
AU  - Georgios-Konstantinos Papaioannou
AU  - Marios Mamalis
AU  - Sandro Orru
AU  - Emmanouil Manolakos
AU  - Ioannis Papoulidis
PY  - 2026
JO  - Experimental and Therapeutic Medicine
DO  - 10.3892/etm.2026.13331
UR  - https://doi.org/10.3892/etm.2026.13331
ER  - 

APA

Papageorgiou, E., Keramida, C., Siomou, E., Eustathiadou, C., Rotas, M., Chlapoutaki, C., Sotiriou, S., Papaioannou, G., Mamalis, M., Orru, S., Manolakos, E., & Papoulidis, I. (2026). Prenatal diagnosis of CHARGE syndrome in a fetus with a novel CHD7 splicing mutation: A case report. Experimental and Therapeutic Medicine. https://doi.org/10.3892/etm.2026.13331

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