참고문헌
- Karaa A, Stoler JM. Ehlers-Danlos syndrome: An unusual presentation you need to know about. Case Rep Pediatrics 2013:764659 (Epub. 2013 May 16).
- Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child 2014; archdischild-2013-304822 (Epub. 2014 Jul 3).
- Yoneda A, Okada K, Okubo H, Matsuo M, Kishikawa H, Naing BT, et al. Spontaneous colon perforations assosicated with a vascular type of Ehlers-Danlos syndrome. Case Per Gastroenterol 2014;8:175-81. https://doi.org/10.1159/000363373
- Nakanishi K, Tajiri N, Nakai M, Shimizu S. Recurrent arterial aneurysm rupture of the upper extremity in a patient with vascular-type Ehlers-Danlos syndrome. Interact Cardiovasc Thorac Surg 2014: ivu 208 (Epub. 2014 Jul 3).
- Barajas BD, Sun A, Rimoin DL, Reinstein E. Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder. Am J Med Genet A 2013;161:1442-6. https://doi.org/10.1002/ajmg.a.35894
- Kashizaki F, Hatamochi A, Kamiya K, Yoshizu A, Okamoto H. Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report. J Med Case Rep 2013;7:35. https://doi.org/10.1186/1752-1947-7-35
- Abayazeed A, Hayman E, Moghadamfalahi M, Cain D. Vascular type Ehlers-Danlos syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature. J Radiol Case Rep 2014;8:63-9. https://doi.org/10.1186/1752-1947-8-63
- Sadakata R, hatamochi A, Kodama K, Kaga A, Yamaguchi T, Soma T, et al. Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene. Inter Med 2010;49:1797-800. https://doi.org/10.2169/internalmedicine.49.3435
- Shalgub S, Black JH 3rd, Cecchi AC, Xu Z, Griswold BF, Safi HJ, et al. Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. J Vasc Surg 2014;60:160-9. https://doi.org/10.1016/j.jvs.2014.01.070
- Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, et al. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. J Dermatol Sci 2011;64:237-40. https://doi.org/10.1016/j.jdermsci.2011.09.002
- Schwarze U, Goldstein JA, Byers PH. Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV. Am J Hum Genet 1997;61:1276-86. https://doi.org/10.1086/301641
- Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000;342:673-80. https://doi.org/10.1056/NEJM200003093421001
- Yang JH, Lee ST, Kim JA, Kim SH, Jang SY, Ki CS, et al. Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV. J Korean Med Sci 2007;22:698-705. https://doi.org/10.3346/jkms.2007.22.4.698