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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