INTRODUCTION: Pulmonary arterial hypertension (PAH) is characterized by progressive
endothelial dysfunction and vascular remodeling of the pulmonary arteries that may be …

Idiopathic pulmonary hypertension (IPAH) is a rare progressive vasculopathy with an
unknown etiology, and it is fatal if not diagnosed and treated in time (1). Moyamoya disease …

Moyamoya disease is characterized by diffuse distal intracranial stenosis. Recently, RNF213
has been identified as a susceptibility gene in the development of this condition. Pulmonary …

Moyamoya is an uncommon cerebral vasculopathy characterized by progressive stenosis of
the circle of Willis and its principle branches. Moyamoya is more frequent in east-Asian …

BACKGROUND A variant of c. 14429G> A (p. Arg4810Lys, rs112735431) in the ring finger
protein 213 gene (RNF213; NM_001256071. 2) has been recently identified as a risk allele …

A 51-year-old Hispanic female with no relevant medical history exhibited progressive
dyspnoea on exertion without haemoptysis, fever, malaise, skin lesions, or arthritis. She …

Peripheral pulmonary artery stenosis (PPAS) is a rare pulmonary vasculopathy
characterized by multiple stenoses and obstructions in the peripheral pulmonary arteries …

Ring finger 213 (RNF213) is a susceptibility gene for moyamoya disease (MMD), a
progressive cerebrovascular disease. Recent studies suggest that RNF213 plays an …

Background Peripheral pulmonary arterial stenosis (PPAS) in childhood is frequently
associated with other syndromes; however, PPAS in adolescents and adults is rare and its …

Moyamoya disease (MD) is a rare vaso-occlusive disorder that primarily affects intracranial
cerebral arteries. The involvement of extracranial vessels is unusual. However, there are …