-Related Ciliopathy: Report of Six Polish Patients, Novel Variant, and Literature Review of Reported Cases.

Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the gene. The aim of our study was to present the clinical, pathological and molecular report of six patients (from three unrelated families) with biallelic pathogenic variants. A detailed overview of the reported patients with -related disease was provided.