TY  - GEN
AU  - Piqueras-Flores,Jesús
AU  - Trujillo-Quintero,Juan Pablo
AU  - Frías-García,Raquel
AU  - González-Marín,María Arántzazu
AU  - Monserrat,Lorenzo
AU  - Hernández-Herrera,Germán
TI  - Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene
SN  - 1885-5857
PY  - 2020///0113
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - DNA
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Female
KW  - Fibrillin-1
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mitral Valve Prolapse
KW  - diagnosis
KW  - Mutation
KW  - Myopia
KW  - Pedigree
KW  - Phenotype
KW  - Skin Diseases
KW  - Tomography, X-Ray Computed
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.rec.2019.01.014
ER  -