Open access
Jul 2026
Intrafamilial heterogeneity of clinical manifestations of a FBN1 gene variant in Marfan syndrome
This case demonstrates that a causative variant does not allow for a definitive prognosis of the disease course, and all carriers of the identified variant require regular multidisciplinary monitoring, regardless of the severity of clinical manifestations at the time of diagnosis.
E. Baranovskaya, A. Bukaeva, V. A. Rumyantseva et al.
· CARDIOVASCULAR THERAPY AND P... · 0 citations