Arteriovenous malformations are a vascular anomaly typically present at birth, characterized
by an abnormal connection between an artery and a vein (bypassing the capillaries). These …

Ras p21 protein activator 1 (RASA1) is a regulator of Ras GDP and GTP and is involved in
numerous physiological processes such as angiogenesis, cell proliferation, and apoptosis …

To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common
and most severe of congenital brain arteriovenous malformations, we performed an …

The field of vascular anomalies has grown tremendously in the last few decades with the
identification of key molecular pathways and genetic mutations that drive the formation and …

Abstract Objective Congenital lymphatic anomalies (LAs) arise due to defects in lymphatic
development and often present in utero as pleural effusion, chylothorax, nuchal and soft …

RASopathies are a heterogeneous group of genetic syndromes caused by germline
mutations in a group of genes that encode components or regulators of the Ras/mitogen …

Purpose EPHB4 variants were recently reported to cause capillary malformation–
arteriovenous malformation 2 (CM-AVM2). CM-AVM2 mimics RASA1-related CM-AVM1 and …

Background Capillary malformation-arteriovenous malformation is an autosomal dominant
disorder, characterised by capillary malformations and increased risk of fast-flow vascular …

Vascular malformations (VMs) are clinically diverse with regard to the vessel type,
anatomical location, tissue involvement and size. Consequently, symptoms and disease …

Vascular anomalies are a heterogeneous group of disorders that are currently classified
based on their clinical and histological characteristics. Over the past decade, there have …