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A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant by Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki, Yosuke Nishio, Tomoo Ogi, Jun Tohyama, Takeshi Ikeuchi
Published 2024-02-01Get full text
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De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications by Yuri Moriura, Yosuke Nishio, Shintaro Ichimura, Haruka Noda, Yoshihiro Tanahashi, Hikaru Yamamoto, Yuka Nakazawa, Taichi Oso, Yoshiaki Sato, Toshiki Takenouchi, Shinji Saitoh, Yukako Muramatsu, Tomoo Ogi
Published 2025-05-01Get full text
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