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Targeted gene(s)/phenotype under study
TAF2/Mental retardation, autosomal recessive 40 (OMIM 615599)
Abstract
We are collecting patients with intellectual disability and biallelic (homozygous or compound heterozygous) variants in TAF2 in order to better describe the phenotype and the variants
Coordinating clinicians/researchers
Marion Lesieur and Boris Keren
Contact: marion.lesieur@aphp.fr, boris.keren@aphp.fr
Institution
Genetics Department,
Pitié-Salpêtrière Hospital
Paris, France
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : No
- Resampling of patients : No
- Linked to a translational/basic research project? No