Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene. [electronic resource]
- Revista espanola de cardiologia (English ed.) Oct 2019
- 868-870 p. digital
Publication Type: Journal Article
1885-5857
10.1016/j.rec.2019.01.014 doi
Adolescent Adult Child DNA--genetics DNA Mutational Analysis Female Fibrillin-1--genetics Humans Male Middle Aged Mitral Valve Prolapse--diagnosis Mutation Myopia--diagnosis Pedigree Phenotype Skin Diseases--diagnosis Tomography, X-Ray Computed Young Adult