1. Characterization of an Ultra-Rare Disorder

Characterization of an Ultra-Rare Disorder

Maria Eugenia Rocha 1 Tainá Regina Damaceno Silveira 1 Erina Sasaki 2 D M Sás 3 C.M. Lourenço 4 Krishna Kumar Kandaswamy, PhD 1 Christian Beetz 1 Prof. Arndt Rolfs, MD 1 Dr. Peter Bauer, MD 1 Dr. Willie Reardon 2 Aida M. Bertoli-Avella, MD 1
1 CENTOGENE AG 2 Clinical Genetics, Children's Health Ireland (CHI), Crumlin, Ireland 3 Genotyping, Diagnóstico Genéticos, Botucatu, São Paulo, Brazil 4 Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, São Paulo, Brazil
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.