Closed
Targeted gene under study
SCAPER (OMIM # 618195)
Abstract
We are collecting clinical and molecular data from patients with bi-allelic pathogenic variants (SNV or CNV) in SCAPER, for a publication.
If you are interested in participating in this project, please contact us.
Coordinating clinicians/researchers
Charlotte Tardy (Resident) – charlotte.tardy@ap-hm.fr
Dr Sabine Sigaudy, Dr Missirian Chantal, Dr Svetlana Gorokhova
Institution
AP-HM, Hôpital Timone enfants, Marseille
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No