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A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family by Yutaka Hasegawa, Toshie Segawa, Ai Chida, Eriko Yoshida, Hirofumi Kinno, Hiraku Chiba, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki
Published 2024-11-01
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Successful Treatment With Evocalcet Against Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Identified by AP2S1 Gene Mutation (p.Arg15Leu) by Ai Chida, Yutaka Hasegawa, Toshie Segawa, Daisuke Yamabe, Hirotaka Yan, Yusuke Chiba, Hiraku Chiba, Hirofumi Kinno, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki
Published 2025-01-01
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