Joubert Syndrome: When to Suspect a Ciliopathy in a Patient with Liver Failure and Syndromic Phenotype
1. Abstract Joubert Syndrome (JS) and related disorders (JSRD) are a group of rare and heterogeneous conditions that share as a hallmark the “molar tooth sign” (MTS), a complex midbrain-hindbrain malformation visible on brain imaging. Ten causative genes with different patterns of inheritance have been identified to date, all encoding for proteins of the primary …