Aortic dissection is a life-threatening condition caused by a tear in the intimal layer of the
aorta or bleeding within the aortic wall, resulting in the separation (dissection) of the layers …

The aorta is the largest artery in the body, delivering oxygenated blood from the left ventricle
to all organs. Dissection of the aorta is a lethal condition caused by a tear in the intimal layer …

Background: Patients with aortic dissection during pregnancy and postpartum period exhibit
a high mortality. At present, a complete overview of aortic dissection during pregnancy and …

Background Differences in the expression of variants across ethnic groups in the systemic
lupus erythematosus (SLE) patients have been well documented. However, the genetic …

Leber congenital amaurosis (LCA) is a heterogeneous, early‐onset inherited retinal
dystrophy, which is associated with severe visual impairment. We aimed to determine the …

Background Adult-onset hemophagocytic lymphohistiocytosis (HLH) is a rare and life-
threatening condition, which is often triggered by certain types of infection, cancer and …

Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder primarily
characterized by multiple café-au-lait macules, peripheral neurofibromas, skinfold freckling …

Background/Aims. Corneal dystrophies (CDs) belong to a group of hereditary
heterogeneous corneal diseases which result in visual impairment due to the progressive …

Abstract Fibrillin-1 and-2 form supramolecular networks in the connective tissue space that
are crucial for development and homeostasis of bone tissues. These so called fibrillin …

GNE myopathy is a rare, recessively inherited, early adult‐onset myopathy, characterized by
distal and proximal muscle degeneration which often spares the quadriceps. It is caused by …