The discovery will allow a precise genetic diagnosis for a greater number of children affected by this condition, and help inform better clinical management. (sciencedaily.com)
We are fortunate to have these tools to help us provide genetic diagnoses to our patients, sometimes even in cases where the patients have no mutations in known causes of their disease. (sciencedaily.com)
The other programs are having similar success at making possible genetic diagnoses. (scientificamerican.com)