Closed
Targeted gene under study
CHD3-related syndrome (OMIM #618205 Snijders Blok-Campeau syndrome; ORPHA:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome)
Abstract
As part of a project looking at growth pathologies and epigenetics, we want to produce a phenotypic and molecular description of patients (including episignature) carrying a pathological variant for CHD3. Clinical data and a DNA aliquot (from blood) will be collected. Two patients are currently being studied.
Coordinating clinicians/researchers
Maud de Dieuleveult – maud.de-dieuleveult@inserm.fr
Valérie Cormier-Daire
Institution
Institut Imagine INSERM U1163, Paris, France
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: Yes
- Resampling of patients: No
- Linked to a translational/basic research project: No