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  1. Van Dijk FS, Sillence DO: Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A, 2014; 164: 1470–1481.

  2. Loeys BL, Dietz HC, et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet, 2010; 47: 476–485.

  3. Malfait F, Francomano C, et al: The 2017 international classification of the Ehlers–Danlos syndromes Am J Med Genet C Semin Med Genet, 2017; 175: 8–26.

  4. 軟骨無形成症診療ガイドライン作成委員会：軟骨無形成症診療ガイドライン．http://jspe.umin.jp/medical/files/guide2_20190111.pdf.