Closed
Targeted gene(s)/phenotype under study
Gene: FOSL2
Abstract
We would like better delineate the clinical spectrum and natural history of a new syndrome linked to the FOSL2 This new phenotype is characterised by specific morphological anomalies, growth retardation and a neurodevelopmental disorder.
In the 5 cases already identified throughout Europe, a de novo variation was found out in a coding region of the FOSL2 gene (NM_005253.3).
Coordinating clinicians /researchers
- Pr Koen DEVRIENDT
- Dr Laurent PASQUIER
Contact: koenraad.devriendt@uzleuven.be
Institutions
UZ Leuven
Herestraat 49, 3000
Leuven, Belgium
CHU Rennes
2 rue Henri Le Guilloux
Rennes, France
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : No
- Resampling of patients : Yes
- Linked to a translational/basic research project? In progress