Fig. 1From: Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblingsClinical summary for a JS family. a Family pedigree. An unrelated natural couple who gave birth to two affected siblings (black arrow denotes the proband). b–e The affected siblings and their axial brain MRI (Yellow arrowheads showed the thick and long superior cerebellar peduncles, forming the roots of the so-called “molar tooth sign”)Back to article page