RNF213 and popliteal pterygium syndrome: Recently, a variant of c.14429G>A (p.R4810K, rs112735431) in the ring finger protein 213 gene (RNF213) was reported to be associated with systemic vasculopathy, named “RNF213-associated vascular disease,” which includes moyamoya disease, pulmonary arterial hypertension, and peripheral pulmonary artery stenosis (PPS).2