Assessment of the prevalence of AHI1 mutations in Joubert syndrome and cerebello-oculo-renal syndromes (JS/CORS)
Assessment of the prevalence of CEP290 mutations and NPHP1 homozygous deletions in JS/CORS ; Caracterization of mutational spectrum of AHI1, NPHP1, CEP290 genes in JS/CORS ; Evaluation of genotype-phenotype correlation in JS/CORS.
Child, Adult, Senior
April 1, 2009
June 3, 2010
Hopital Trousseau Paris, France
† Study has passed its completion date and status has not been verified in more than two years.