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Clinical Trial Summary

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.


Clinical Trial Description

n/a


Study Design

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Basic Science


Related Conditions & MeSH terms


NCT number NCT02812511
Study type Interventional
Source University Hospital, Bordeaux
Contact
Status Completed
Phase N/A
Start date June 2015
Completion date July 2015

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