GLI2 and postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome: Incomplete penetrance has been described for the GLI2 gene, and the clinical phenotype of the disease differs even among members of the same family with the same nucleotide variant.<h4>Aim</h4>Study clinical and molecular genetic polymorphism in patients with Culler-Jones syndrome.<h4>Materials and methods</h4>A single-center, non-interventional, single-stage, non-comparative study was conducted.