Article
Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.
Journal of the American Heart Association - 7 May 2024
Chida-Nagai Ayako, Akagawa Hiroyuki, Sawai Saori, Ma Yue-Jiao, Yakuwa Satoshi, Muneuchi Jun, Yasuda Kazushi, Yamazawa Hirokuni, Yamamoto Toshiyuki, Takakuwa Emi, Tomaru Utano, Furutani Yoshiyuki, Kato Tatsuya, Harada Gen, Inai Kei, Nakanishi Toshio, Manabe Atsushi, Takeda Atsuhito, Jing Zhi-Cheng
Abstract excerpt
BACKGROUND: Peripheral pulmonary stenosis (PPS) is a condition characterized by the narrowing of the pulmonary arteries, which impairs blood flow to the lung. The mechanisms underlying PPS pathogenesis remain unclear. Thus, the aim of this study was to investigate the genetic background of patients with severe PPS to elucidate the pathogenesis of this condition. METHODS AND RESULTS: We performed genetic testing...
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