Closed

Targeted gene under study

GSK3B

Abstract

We have identified a heterozygous LoF variant of GSK3B in a family with syndromic developmental disorder and we are looking for other patients carrying variants of this gene.

Coordinating clinicians/researchers

Dr Sandrine Marlin Р sandrine.marlin@aphp.fr

Institution     

Genomic medicine for rares diseases; Hopital Necker; Paris, France

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: Yes
  • Linked to a translational/basic research project: Yes