Mulibrey Nanism and the Real Time Use of Genome and Biobank Engines to Inform Clinical Care in an Ultrarare Disease

Circ Genom Precis Med. 2021 Jun;14(3):e003430. doi: 10.1161/CIRCGEN.121.003430. Epub 2021 Jun 7.
No abstract available

Keywords: cardiovascular disease; genetics; genome; genotype; mulibrey nanism.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Female
  • Humans
  • Liver Cirrhosis* / diagnosis
  • Liver Cirrhosis* / genetics
  • Liver Cirrhosis* / therapy
  • Mitral Valve Prolapse* / diagnosis
  • Mitral Valve Prolapse* / genetics
  • Mitral Valve Prolapse* / therapy
  • Mulibrey Nanism* / diagnosis
  • Mulibrey Nanism* / genetics
  • Rare Diseases* / diagnosis
  • Rare Diseases* / genetics