Patients diagnosed with hearing loss due to variants in the otoferlin gene, or OTOF, can now participate in a specific registry at the University Medical Center Göttingen (UMG). The registry, [...]
Congenital rare skeletal disorders are conditions that affect the development and growth of bone and cartilage tissue. In most cases they are genetic in nature. They manifest either as skeletal [...]
New insights into how senescent cells play a role in wound healing not only through its secretory action but also by impacting on cell mechanics have been provided by a study performed at Charité [...]
WARS1 is one of many key enzymes required for protein synthesis. Genetic variants in WARS1 are rare, with extremely limited evidence implicating it in a clinically heterogeneous autosomal [...]
In a young patient referred to the Institute of Human Genetics at the University Medical Center Göttingen, the clinical suspicion of Proteus syndrome was made and confirmed by molecular genetic [...]
