P457: Characterization of a balanced translocation disrupting SOX9: Implications for campomelic dysplasia
The family presented to our clinic for counseling on the significance of the balanced translocation and COL11A2 VUS. Review of in silico evidence and clinical correlation did not raise suspicion for Stickler syndrome.
Authors
- Aisha Rekab
- Christina Frater
- Andrés Morales Corado
Institutions
- Columbia College (CA)
- Columbia University (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103324
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00