Novel variants identified in five Chinese families with Joubert Syndrome: a case report

Joubert syndrome (JS) is a group of rare ciliopathies, mainly characterized by cerebellar dysplasia representing the “molar tooth sign (MTS)” on neuroimaging, hypotonia, and developmental delay. Having a compl...
Source: BMC Medical Genomics - Category: Genetics & Stem Cells Authors: Tags: Case Report Source Type: research