8-15-3　ⓔ文献

  1. 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.

  2. 武田憲文：血管型エーラス・ダンロス症候群．別冊日本臨牀，2019; 6: 358–363.

  3. Malfait F, Symoens S, et al: Three arginine to cysteine substitutions in the pro–alpha (I)–collagen chain cause Ehlers–Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum Mutat, 2007; 28: 387–395.

  4. Pepin MG, Schwarze U, et al: Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type Ⅳ). Genet Med, 2014; 16: 881–888.

  5. Frank M, Albuisson J, et al: The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome. Eur J Hum Genet, 2015; 23: 1657–1664.

  6. Ong KT, Perdu J, et al: Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers–Danlos syndrome: a prospective randomised, open, blinded–endpoints trial. Lancet, 2010; 376: 1476–1484.

  7. Frank M, Adham S, et al: Vascular Ehlers–Danlos syndrome: long–term observational study. J Am Coll Cardiol, 2019; 73: 1948–1957.