偽性Bartter 症候群を呈した腎低異形成の乳児：次世代シークエンサーでPAX2 変異が同定され，腎コロボーマ症候群と診断した1 女児例
Ken Hatae, Yumi Keida, Maiko Hinokiyama, Rie Kuroki, Mari Kurokawa, Naoya Morisada, Kandai Nozu, Kazumoto Iijima
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