Targeted gene under study:
* 605802 / # 235730 / ORPHA:2152
Abstract
The postnatal phenotype of Mowatt-Wilson syndrome (ZEB2) is well known. However, only a few fetal case reports with antenatal description have been reported in the literature. Following a call for collaboration via Soffoet (France), we have collected several fetal cases. In order to refine the prenatal phenotypic description of Mowatt-Wilson syndrome, we are interested in fetuses carrying pathogenic or probably pathogenic variants in ZEB2 with autopsy if possible and detailed antenatal data of your patients.
Coordinating clinician
Cindy Colson – Cindy.colson@chu-lille.fr
Institution
Service Génétique, CHU Lille, 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: Yes/No