Kenichiro Takeda   Ayumi Sekine   Nobuhiro Tanabe   Toshihiko Sugiura   Ayako Shigeta   Shinsuke Kitahara   Shun Imai   Tadasu Okaya   Jun Nagata   Akira Naito   Seiichiro Sakao   Koichiro Tatsumi   Takuji Suzuki   
Respiratory medicine case reports 42 101829-101829 2023年
RNF213 p.Arg4810Lys is linked to various vascular diseases, including pulmonary arterial hypertension (PAH); however, its pathogenesis remains unclear. Here, we report the unique features of two cases of severe PAH with this variant: one is the fi...