SOX9 Gene Variants in 27 French Bulldogs with Disorder of Sex Development (XX, SRY-Negative): Identification of First Case of Skeletal Abnormalities Associated with SOX9 Triplication
We conclude that SOX9 duplication is a rare cause of XX DSD in French Bulldogs, and that the identified sequence variants in this gene are not associated with the disorder.
Authors
- Izabela Szczerbal (ORCID: https://orcid.org/0000-0002-4238-0414)
- Wojciech Niżański (ORCID: https://orcid.org/0000-0003-1056-0784)
- Dorota Różańska (ORCID: https://orcid.org/0000-0002-0561-2749)
- M. Świtoński (ORCID: https://orcid.org/0000-0003-2539-9508)
- Marcia Mikolajczak
- Tomasz Nowak (ORCID: https://orcid.org/0000-0002-1820-5202)
- Joanna Nowacka‐Woszuk (ORCID: https://orcid.org/0000-0002-1041-3576)
- Sara Albarella (ORCID: https://orcid.org/0000-0002-4018-8007)
- Stanisław Dzimira (ORCID: https://orcid.org/0000-0001-7203-2392)
- Brygida Ślaska (ORCID: https://orcid.org/0000-0003-3933-2400)
- Natalia Sowińska (ORCID: https://orcid.org/0000-0002-6576-8972)
- Marta Sobczak
- Zuzanna Sawicz
- Emanuele D’Anza (ORCID: https://orcid.org/0000-0001-8347-0910)
Institutions
- University of Life Sciences in Lublin (PL)
- Wrocław University of Environmental and Life Sciences (PL)
- Clínica MEDS (Chile) (CL)
- University of Life Sciences in Poznań (PL)
- University of Naples Federico II (IT)
Publication Details
- Journal
- Sexual Development
- Published
- 2025-08-28
- DOI
- https://doi.org/10.1159/000548218
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00