Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients

Clin Dysmorphol. 2018 Jul;27(3):78-83. doi: 10.1097/MCD.0000000000000219.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cardiomegaly / diagnosis*
  • Cardiomegaly / genetics*
  • Cardiomegaly / metabolism
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Hypertrichosis / diagnosis*
  • Hypertrichosis / genetics*
  • Hypertrichosis / metabolism
  • Male
  • Netherlands
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / metabolism
  • Phenotype
  • Sulfonylurea Receptors / genetics*
  • Sulfonylurea Receptors / metabolism

Substances

  • ABCC9 protein, human
  • Sulfonylurea Receptors

Supplementary concepts

  • Cantu syndrome