Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene

Rev Esp Cardiol (Engl Ed). 2019 Oct;72(10):868-870. doi: 10.1016/j.rec.2019.01.014. Epub 2019 May 1.
[Article in En, Spanish]
No abstract available

MeSH terms

  • Adolescent
  • Adult
  • Child
  • DNA / genetics*
  • DNA Mutational Analysis
  • Female
  • Fibrillin-1 / genetics*
  • Fibrillin-1 / metabolism
  • Humans
  • Male
  • Middle Aged
  • Mitral Valve Prolapse / diagnosis
  • Mitral Valve Prolapse / genetics*
  • Mitral Valve Prolapse / metabolism
  • Mutation*
  • Myopia / diagnosis
  • Myopia / genetics*
  • Myopia / metabolism
  • Pedigree
  • Phenotype
  • Skin Diseases / diagnosis
  • Skin Diseases / genetics*
  • Skin Diseases / metabolism
  • Tomography, X-Ray Computed
  • Young Adult

Substances

  • Fibrillin-1
  • DNA

Supplementary concepts

  • MASS syndrome