Improved detection of low-level GNAQ mosaicism in Sturge-Weber syndrome through affected tissue testing, deep sequencing, and HRM-qPCR
- DOI
- 10.1186/s13023-026-04530-z
- Published
- 2026-08-03
- Container
- Orphanet Journal of Rare Diseases
- Publisher
- Springer Science and Business Media LLC
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1186/s13023-026-04530-z,
title = {Improved detection of low-level GNAQ mosaicism in Sturge-Weber syndrome through affected tissue testing, deep sequencing, and HRM-qPCR},
author = {Stephanie Lilja and Sarah Glatter and Magdalena Vass and Birgit Pimpel and Bernhard Rosensteiner and Amina Paquay and Iris Schmidt and Robert Birnbacher and Reginald E. Bittner and Martha Feucht and Wolfgang M. Schmidt},
year = {2026},
journal = {Orphanet Journal of Rare Diseases},
doi = {10.1186/s13023-026-04530-z},
url = {https://doi.org/10.1186/s13023-026-04530-z}
}RIS
TY - JOUR TI - Improved detection of low-level GNAQ mosaicism in Sturge-Weber syndrome through affected tissue testing, deep sequencing, and HRM-qPCR AU - Stephanie Lilja AU - Sarah Glatter AU - Magdalena Vass AU - Birgit Pimpel AU - Bernhard Rosensteiner AU - Amina Paquay AU - Iris Schmidt AU - Robert Birnbacher AU - Reginald E. Bittner AU - Martha Feucht AU - Wolfgang M. Schmidt PY - 2026 JO - Orphanet Journal of Rare Diseases DO - 10.1186/s13023-026-04530-z UR - https://doi.org/10.1186/s13023-026-04530-z ER -
APA
Lilja, S., Glatter, S., Vass, M., Pimpel, B., Rosensteiner, B., Paquay, A., Schmidt, I., Birnbacher, R., Bittner, R. E., Feucht, M., & Schmidt, W. M. (2026). Improved detection of low-level GNAQ mosaicism in Sturge-Weber syndrome through affected tissue testing, deep sequencing, and HRM-qPCR. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-026-04530-z
Source records
- crossref · retrieved 2026-11-10T14:37:52.075Z