DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases
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DOI: 10.3390/diagnostics13111917
Abstract: Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the DCDC2 gene. The aim of our study was to present the clinical, pathological and molecular report… read more here.
Keywords: dcdc2 related; related ciliopathy; disease; novel dcdc2 ... See more keywords