Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing
- DOI
- 10.1186/s13023-026-04453-9
- Published
- 6
- Container
- Orphanet Journal of Rare Diseases
- Publisher
- Not recorded
- Open access
- yes
Credibility signals
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Cite this work
BibTeX
@article{allodium:10.1186/s13023-026-04453-9,
title = {Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing},
author = {Ewa Błaszczyk and Małgorzata Więcek and Aleksandra Jazela-Stanek and Grzegorz Kudela and Tomasz Koszutski and Karolina Kowalczyk and Jagoda Sikora and Agnieszka Wiernik and Małgorzata Żarczyńska and Wiktoria Kempińska and Agnieszka Bielska-Brodziak and Aneta Gawlik-Starzyk},
year = {2026},
journal = {Orphanet Journal of Rare Diseases},
doi = {10.1186/s13023-026-04453-9},
url = {https://doi.org/10.1186/s13023-026-04453-9}
}RIS
TY - JOUR TI - Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing AU - Ewa Błaszczyk AU - Małgorzata Więcek AU - Aleksandra Jazela-Stanek AU - Grzegorz Kudela AU - Tomasz Koszutski AU - Karolina Kowalczyk AU - Jagoda Sikora AU - Agnieszka Wiernik AU - Małgorzata Żarczyńska AU - Wiktoria Kempińska AU - Agnieszka Bielska-Brodziak AU - Aneta Gawlik-Starzyk PY - 2026 JO - Orphanet Journal of Rare Diseases DO - 10.1186/s13023-026-04453-9 UR - https://doi.org/10.1186/s13023-026-04453-9 ER -
APA
Błaszczyk, E., Więcek, M., Jazela-Stanek, A., Kudela, G., Koszutski, T., Kowalczyk, K., Sikora, J., Wiernik, A., Żarczyńska, M., Kempińska, W., Bielska-Brodziak, A., & Gawlik-Starzyk, A. (2026). Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-026-04453-9
Source records
- doaj · retrieved 2026-11-10T16:29:48.807Z