Costello Syndrome Clinical Trial
Official title:
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.
n/a
Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Basic Science
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