Characterization of an Ultra-Rare Disorder
Novel clinical and genetic insight into CXorf56-associated intellectual disability
Novel gene-disease associations are continuously being proposed, but the underlying evidence is frequently based on only a few patients from a single family. CENTOGENE’s focus on rare disease diagnostics has enabled us to internally confirm many pertinent observations. For a rare form of intellectual disability, we recently reported our corresponding clinical genetic data in the European Journal of Human Genetics.