Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …

Vascular malformations are localized defects of vascular development. They usually affect a
limited number of vessels in a restricted area of the body. Although most malformations are …

Sturge-Weber syndrome is a neurocutaneous disorder classically presenting with a facial
port-wine stain, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal …

Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is
a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for …

Vascular anomalies are localized defects of the vasculature, and usually affect a limited
number of vessels in a restricted area of the body. They are subdivided into vascular …

Objectives: To assess patients with different types of mutations of the β myosin heavy chain
(β MHC) gene causing hypertrophic cardiomyopathy (HCM) and to determine the prognosis …

Vascular anomalies are localized abnormalities that occur during vascular development.
Several causative genes have been identified not only for inherited but also for some …

Vascular malformations are present in a great variety of congenital syndromes, either as the
predominant or additional feature. They pose a major challenge to the clinician: due to …

Most vascular anomalies involve the skin, the largest, most visible organ of the body, and
therefore are noted at birth. For centuries, vascular birthmarks were referred to by vernacular …

Hereditary capillary malformations are known to be caused by mutations in the RASA1
gene. The associated phenotype is still subject of debate. The purpose of this study was to …