Piqueras-Flores, Jesús

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