“But this was different from what we saw in our patient.” Patients with DBA also have bone malformations. Interestingly, ...

Learn how researchers cracked a genetic mystery, diagnosing undiagnosed diseases by identifying FLVCR1 mutations.

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing.

Aaron Jones was conducting his weekly news conference when he saw an opening, took it and, per usual, made the most of it.

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for ...