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Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparath... by Yasuhisa Ohata, Haruna Kakimoto, Yuko Seki, Yasuki Ishihara, Yukako Nakano, Kenichi Yamamoto, Shinji Takeyari, Makoto Fujiwara, Taichi Kitaoka, Satoshi Takakuwa, Takuo Kubota, Keiichi Ozono
Published 2022-12-01
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A parent and child with Liddle syndrome diagnosed correctly with the child as the proband: a case report with review of literature by Minako Tokunaga, Yuko Seki, Tatsushi Horiguchi, Kiwako Miura, Haruna Kakimoto, Satoshi Morita, Michiyo Mizota, Koshi Kusumoto, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yasuhiro Okamoto
Published 2025-03-01
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