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 [...]
Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary disorders of the heart. It causes thickening of the heart muscle, which may impair the heart’s function. Several [...]
Researchers of the Institute of Human Genetics at the University Medical Center Göttingen, together with their colleagues at the Institute of Human Genetics in Essen and other collaboration [...]
