Closed
Gene/phenotype/disorder under study
FRAS1 (#607830)
FREM2 (#608945)
GRIP1 (#604597)
Abstract
Description of fetal cases with congenital abnormalities of the kidneys and urinary tract +/- genital abnormalities due to biallelic variations in the FRAS1, FREM2, and GRIP1 genes without other signs of FRASER syndrome.
Coordinating clinicians
Ghesh Leïla – leila.ghesh@chu-nantes.fr
Institution
CHU de Nantes, Nantes, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No