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.frboris.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

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