Targeted syndrom under study
XRCC4 (OMIM #616541)
We are currently working on the constitution of a cohort for patients with microcephalic dwarfism by biallelic variation in the XRCC4 gene. To date, there are 15 patients reported in the literature. We mainly hope to expand the phenotypic spectrum in this rare disease.
Thank you for your interest in this project.
We remain at your disposal for any further information
Hospices Civils de Lyon HCL – 69500 – France
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