Clinical Trial Update: Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome

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Summary

This completed clinical trial assessed how frequently mutations in AHI1, NPHP1, and CEP290 occur in individuals with Joubert syndrome and related cerebello-ocul…

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Diseases / indications

• Cerebello-oculo-renal Syndrome
• Joubert Syndrome

Snippet

Sponsor: Assistance Publique - Hôpitaux de Paris | Conditions: Joubert Syndrome, Cerebello-oculo-renal Syndromes | Status: COMPLETED