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  1. Characterization of an Ultra-Rare Disorder

Characterization of an Ultra-Rare Disorder

Maria Eugenia Rocha Tainá Regina Damaceno Silveira Erina Sasaki D M Sás C.M. Lourenço Krishna Kumar Kandaswamy, PhD Christian Beetz Prof. Arndt Rolfs, MD Dr. Peter Bauer, MD Dr. Willie Reardon Aida M. Bertoli-Avella, MD
December 10, 2019

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.