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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 pseudopseudohypoparathyroidism in two unrelated Japanese families.
Ohata Y, Kakimoto H, Seki Y, Ishihara Y, Nakano Y, Yamamoto K, Takeyari S, Fujiwara M, Kitaoka T, Takakuwa S, Kubota T, Ozono K. Ohata Y, et al. Among authors: seki y. Bone Rep. 2022 Nov 10;17:101637. doi: 10.1016/j.bonr.2022.101637. eCollection 2022 Dec. Bone Rep. 2022. PMID: 36407415 Free PMC article.
Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
Saitou H, Kitaoka T, Kubota T, Kanno J, Mochizuki H, Michigami T, Hasegawa K, Fujiwara I, Hamajima T, Harada D, Seki Y, Nagasaki K, Dateki S, Namba N, Tokuoka H, Pimenta JM, Cohen S, Ozono K. Saitou H, et al. Among authors: seki y. Am J Med Genet A. 2024 Aug;194(8):e63612. doi: 10.1002/ajmg.a.63612. Epub 2024 Mar 30. Am J Med Genet A. 2024. PMID: 38554024
1,140 results