Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
We propose that the complex phenotype observed in the patient results from the contribution of l three of these variants. This case highlights some of the challenges encountered in the genetic counseling of families with rare genetic conditions.
Authors
- Perla Audi
- Éliane Chouery (ORCID: https://orcid.org/0000-0002-6257-6609)
- Andrea Superti‐Furga (ORCID: https://orcid.org/0000-0002-3543-7531)
- Daniel Mahfoud (ORCID: https://orcid.org/0000-0002-5569-5167)
- André Mégarbané (ORCID: https://orcid.org/0000-0003-0714-2469)
- Cybel Mehawej (ORCID: https://orcid.org/0000-0002-7209-9359)
- Rima Korban
- Sami Bizzari
- Sandra Corbani
- Pratibha Nair (ORCID: https://orcid.org/0000-0002-1821-2496)
- Stepahny El-Hayek
Institutions
- Centre for Arab Genomic Studies (AE)
- Mohammed Bin Rashid University of Medicine and Health Sciences (AE)
- Fondation Jérôme-Lejeune (FR)
- Lebanese American University (LB)
- University of Lausanne (CH)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-11-28
- DOI
- https://doi.org/10.1159/000542345
- Citations
- 1
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.23