Clinical utility gene card for: Cantú syndrome

Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.185. Epub 2017 Jan 4.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiomegaly / diagnosis
  • Cardiomegaly / genetics*
  • Genetic Testing / methods
  • Genetic Testing / standards
  • Humans
  • Hypertrichosis / diagnosis
  • Hypertrichosis / genetics*
  • Mutation
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Sulfonylurea Receptors / genetics*

Substances

  • ABCC9 protein, human
  • KCNJ18 protein, human
  • Potassium Channels, Inwardly Rectifying
  • Sulfonylurea Receptors

Supplementary concepts

  • Cantu syndrome