Port wine stain (PWS) is a congenital vascular malformation involving human skin.
Approximately 15–20% of children a facial PWS involving the ophthalmic (V1) trigeminal …

Port-wine stains (PWSs) are congenital vascular malformations that involve the skin and
mucosa. To date, the mechanisms underlying the pathogenesis and progression of PWSs …

Background Capillary malformation is a cutaneous vascular anomaly that is present at birth,
darkens over time, and can cause overgrowth of tissues beneath the stain. The lesion is …

Sturge–Weber syndrome is the third most common neurocutaneous disorder, after
neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20 000 live births …

Objective To describe the experience and outcome of performing whole-exome sequencing
(WES) for resolution of patients on a diagnostic odyssey in the first 18 months of an …

Few studies have reported the clinical presentation, surgical treatment, outcomes and
influential factors for patients with epilepsy and Sturge-Weber syndrome. This large-scale …

Abstract Background Sturge–Weber syndrome (SWS) is a rare congenital neurocutaneous
disorder characterized by facial and extracraniofacial capillary malformations and capillary …

Droplet digital PCR (ddPCR), a method for measuring target nucleic acid sequence quantity,
is useful for determining somatic mutation rates using TaqMan probes. In this study, the …

Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular
malformations affecting skin, eyes and leptomeninges of the brain, which can lead to …

Background Several cellular functions relate to ion-channels activity. Physiologically
relevant chains of events leading to angiogenesis, cell cycle and different forms of cell …