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Case Reports
. 2017 Aug;70(8):679-681.
doi: 10.1016/j.rec.2016.11.025. Epub 2017 Jan 20.

Large Family With Marfan Syndrome Demonstrating the Pathogenicity of a "Synonymous" Variant (p.Ile2118=) in the Fibrillin-1 Gene

[Article in English, Spanish]
Juan Pablo Trujillo-Quintero  1 , José María Herrera-Noreña  2 , Víctor X Mosquera-Rodríguez  2 , Xusto Fernández-Fernández  3 , José Manuel Vázquez-Rodríguez  4 , Roberto Barriales-Villa  5
Affiliations
Case Reports

Large Family With Marfan Syndrome Demonstrating the Pathogenicity of a "Synonymous" Variant (p.Ile2118=) in the Fibrillin-1 Gene

[Article in English, Spanish]
Juan Pablo Trujillo-Quintero et al. Rev Esp Cardiol (Engl Ed). 2017 Aug.
No abstract available

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