Clinical and molecular diagnosis of Joubert syndrome and related disorders

We present a large cohort of 59 patients with JS from 55 families. Molecular analysis was performed in 35 families (trio).

Source: Pediatric Neurology - February 2, 2020 Category: Neurology Authors: Akella Radha Rama Devi, Shaik Mohammad Naushad, Lokesh Lingappa Tags: Research Paper Source Type: research