Exome sequencing identifies GLI2 as candidate disease gene.

(A) Pedigree of the reported family. Main known phenotypes are mapped to individuals. Samples marked by a red star were available for Exome Sequencing. Proband is indicated with an arrow. (B) Bar plot representing prioritization scores obtained with Phenolyzer for genes identified from Exome Sequencing. GLI2 can be effectively associated with the clinical phenotype.