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5. Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report. Cortini F; Marinelli B; Seia M; De Giorgio B; Pesatori AC; Montano N; Bassotti A J Med Case Rep; 2016 Oct; 10(1):303. PubMed ID: 27799058 [TBL] [Abstract][Full Text] [Related]
6. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Schwarze U; Schievink WI; Petty E; Jaff MR; Babovic-Vuksanovic D; Cherry KJ; Pepin M; Byers PH Am J Hum Genet; 2001 Nov; 69(5):989-1001. PubMed ID: 11577371 [TBL] [Abstract][Full Text] [Related]
7. A new COL3A1 mutation in Ehlers-Danlos syndrome type IV. Eder J; Laccone F; Rohrbach M; Giunta C; Aumayr K; Reichel C; Trautinger F Exp Dermatol; 2013 Mar; 22(3):231-4. PubMed ID: 23489429 [TBL] [Abstract][Full Text] [Related]
8. Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene. Sadakata R; Hatamochi A; Kodama K; Kaga A; Yamaguchi T; Soma T; Usui Y; Nagata M; Ohtake A; Hagiwara K; Kanazawa M Intern Med; 2010; 49(16):1797-800. PubMed ID: 20720362 [TBL] [Abstract][Full Text] [Related]
9. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. Shalhub S; Byers PH; Hicks KL; Coleman DM; Davis FM; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Charlton-Ouw K; Behrendt CA; Debus ES; von Kodolitsch Y; Zarkowsky D; Powell RJ; Pepin M; Milewicz DM; Regalado ES; Lawrence PF; Woo K J Vasc Surg; 2020 Jan; 71(1):149-157. PubMed ID: 31353273 [TBL] [Abstract][Full Text] [Related]
10. Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications. Beridze N; Frishman WH Cardiol Rev; 2012; 20(1):4-7. PubMed ID: 22143279 [TBL] [Abstract][Full Text] [Related]
11. Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection. Gu G; Yang H; Cui L; Fu Y; Li F; Zhou Z; Zheng Y Vasc Endovascular Surg; 2018 Feb; 52(2):138-142. PubMed ID: 29216800 [TBL] [Abstract][Full Text] [Related]
12. Vascular Ehlers-Danlos syndrome: a case with fatal outcome. Morais P; Mota A; Eloy C; Lopes JM; Torres F; Palmeiro A; Tavares P; Azevedo F Dermatol Online J; 2011 Apr; 17(4):1. PubMed ID: 21549076 [TBL] [Abstract][Full Text] [Related]
14. Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan. Watanabe A; Kosho T; Wada T; Sakai N; Fujimoto M; Fukushima Y; Shimada T Circ J; 2007 Feb; 71(2):261-5. PubMed ID: 17251678 [TBL] [Abstract][Full Text] [Related]
15. Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV. Yang JH; Lee ST; Kim JA; Kim SH; Jang SY; Ki CS; Kim DK J Korean Med Sci; 2007 Aug; 22(4):698-705. PubMed ID: 17728513 [TBL] [Abstract][Full Text] [Related]
16. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome. Okita H; Ikeda Y; Mitsuhashi Y; Namikawa H; Kitamura Y; Hamasaki Y; Yamazaki S; Hatamochi A Arch Dermatol Res; 2010 Jul; 302(5):395-9. PubMed ID: 19543901 [TBL] [Abstract][Full Text] [Related]
18. Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene. Rebelo M; Ramos L; Lima J; Vieira JD; Tavares P; Teixeira L; Matos A; Costa JN Acta Med Port; 2011; 24(6):1079-86. PubMed ID: 22713205 [TBL] [Abstract][Full Text] [Related]
19. [Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects]. Germain D Ann Dermatol Venereol; 1995; 122(4):187-204. PubMed ID: 8526413 [TBL] [Abstract][Full Text] [Related]