Molecular Spectrum and Deep Phenotyping of a Turkish Joubert Syndrome Cohort, Including a Potential Candidate Gene, NPHP4
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Objective: Joubert syndrome (JS) is a rare neurodevelopmental ciliopathy defined by the molar tooth sign (MTS) on brain magnetic resonance imaging accompanied by hypotonia, oculomotor apraxia (OMA), developmental delay, and multi... ...
