Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty
This study expands the clinical and molecular spectrum of ACD, enhancing our understanding of genotype-phenotype correlations of this condition. The phenotypic and endocrinological description of the proband may be helpful for clinicians who consult patients with DSD and skeletal dysplasia.
Authors
- Zofia Kolesińska
- Aleksander Jamsheer (ORCID: https://orcid.org/0000-0003-4058-3901)
- Anna Sowińska‐Seidler (ORCID: https://orcid.org/0000-0002-2493-898X)
- Anna Szoszkiewicz (ORCID: https://orcid.org/0000-0003-4848-9012)
- Paweł Kurzawa (ORCID: https://orcid.org/0000-0002-2223-0291)
- Marek Niedziela (ORCID: https://orcid.org/0000-0001-8862-6937)
- Ewelina Bukowska‐Olech (ORCID: https://orcid.org/0000-0003-0509-1696)
Institutions
- Poznan University of Medical Sciences (PL)
- Genesis HealthCare (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-22
- DOI
- https://doi.org/10.1186/s13023-025-04125-0
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00