Tag Archives: Loeys-Dietz syndrome

TGFbeta signalopathies as a paradigm for translation medicine

Marfan syndrome (MFS) is a disorder that affects different organ systems, such as the heart, aorta, eyes and the skeleton. Typically MFS patients present with tall stature, hands with long fingers, chest deformity. One of its most

Gene sequencing as a novel tool for diagnosing Loeys-Dietz syndrome

Vascular disease is very common and usually follows well known patterns that physicians are thoroughly familiar with. However, from time to time doctors are confronted with »difficult cases« that do not follow usual patterns. A 35-year old