Publication | Open Access

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Mendelian DisorderJoubert SyndromeGenetic DisorderGeneticsMolecular Genetic FindingsGenetic EpidemiologyPediatricsClinical GeneticsDisease Gene IdentificationPublic HealthClinical CorrelationsMedicineMonogenic Disorders