Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Conditions
- Intellectual Disability
- Rubinstein-Taybi Syndrome
- Cystic Fibrosis
- Congenital Heart Defect
- Periventricular Nodular Heterotopia
- Neurodegeneration With Brain Iron Accumulation (NBIA)
- Albinism
Interventions
- GENETIC: Ex-vivo approach concerning 25 patients
- GENETIC: In-vitro approach concerning 25 patients
Sponsor
University Hospital, Bordeaux