Phenotype-genotype study of TAF2

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, Boris Keren
Institution :
Genetics Department,
Pitié-Salpêtrière Hospital,
Paris, France
Contact : marion.lesieur@aphp.fr , boris.keren@aphp.fr
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples : N
- Resampling of patients : N
- Linked to a translational/basic research project? N