Identification of Prostaglandin I 2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.
Ayako Chida-NagaiHiroyuki AkagawaSaori SawaiYue-Jiao MaSatoshi YakuwaJun MuneuchiKazushi YasudaHirokuni YamazawaToshiyuki YamamotoEmi TakakuwaUtano TomaruYoshiyuki FurutaniTatsuya KatoGen HaradaKei InaiToshio NakanishiAtsushi ManabeAtsuhito TakedaZhi-Cheng JingPublished in: Journal of the American Heart Association (2024)
variants may be involved in PPS pathogenesis, and PTGIS represents an effective therapeutic target.