Abstract Gorham–Stout disease (GSD), a rare disorder of unknown etiology, is characterized
by massive osteolysis that is associated with proliferation and dilation of lymphatic vessels …

KRAS gain-of-function mutations are frequently observed in sporadic arteriovenous
malformations. The mechanisms underlying the progression of such KRAS-driven …

Combined germline and somatic second-hit inactivating mutations of the RASA1 gene,
which encodes a negative regulator of the Ras signaling pathway, cause blood and …

Intracranial aneurysms (IAs) are a high-risk factor for life-threatening subarachnoid
hemorrhage. Their etiology, however, remains mostly unknown at present. We conducted …

Cerebrovascular diseases that cause ischaemic or haemorrhagic stroke with subsequent
loss of life or functional capacity due to damage of the brain tissue are among the leading …

Background and Purpose: Do children have an increased risk for brain arteriovenous
malformation (AVM) recurrence compared with adults and does this risk vary depending on …

Port-wine birthmarks (PWBs) are caused by somatic, mosaic mutations in the G protein
guanine nucleotide binding protein alpha subunit q (GNAQ) and are characterized by the …

Mosaic mutations present in the germline have important implications for reproductive risk
and disease transmission. We previously demonstrated a phenomenon occurring in the …

Recent advances in genetic sequencing are transforming our approach to rare-disease
care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also …

Background and Objectives Ras–mitogen-activated protein kinase (MAPK) signaling
abnormalities occur in most brain arteriovenous malformations (bAVMs). No means exist to …