[P1-08] Poster Session 1-08　Rare Diseases 1

[P1-08-15] A novel missense variant of FKBP14 in the Japanese case with kyphoscoliotic Ehlers-Danlos syndrome

Mio Tsuruoka¹, Tomomi Yamaguchi^2,3,4, Tatsuya Yamamoto⁵, Yuri Takiguchi⁴, Tomoki Kosho^2,3,4,6 (1.Department of Genetic Medicine, Graduate School of Medicine, Shinshu University, 2.Department of Medical Genetics, Shinshu University School of Medicine, 3.Center for Medical Genetics, Shinshu University Hospital, 4.Division of Clinical Sequencing, Shinshu University School of Medicine, 5.Department of Pediatrics, Hirosaki University School of Medicine, 6.Research Center for Supports to Advanced Science, Shinshu University)

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