4 Result(s)
within
Aline Verstraeten
Gene Function
-
Article
Open AccessExpanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of...
-
Article
Open AccessSMAD6-deficiency in human genetic disorders
SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-deficiency has been associated with three distinctive human congenital conditions, i.e., conge...
-
Article
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm
Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1–2%)1–3 that frequently presents with ascending aortic aneurysm (AscAA)4. BAV/AscAA shows autosomal dominant inheritance wit...
-
Article
Open AccessFLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typ...
