Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

The objective is to collect skin biopsies rom patients with Costello syndrome to analyze the molecular mechanisms responsible for this syndrome caused by a mutation in the HRAS gene and the effects of this mutation on energy metabolism and mitochondrial physiology.

Inclusion Criteria:

• Children aged over 2 years and under 18
• Children with a Costello Syndrome or Syndrome Cardio-Facio-Cutaneous

Exclusion Criteria:

• Previous history allergic to anesthetics