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.
Authors
- 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