A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome

Clin Dysmorphol. 2016 Oct;25(4):186-9. doi: 10.1097/MCD.0000000000000130.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Child, Preschool
  • China
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics*
  • Dwarfism / diagnosis*
  • Dwarfism / genetics*
  • Facies
  • Female
  • Genotype
  • Humans
  • Limb Deformities, Congenital / diagnosis*
  • Limb Deformities, Congenital / genetics*
  • Mutation*
  • Phenotype
  • Urogenital Abnormalities / diagnosis*
  • Urogenital Abnormalities / genetics*
  • Wnt-5a Protein / genetics*

Substances

  • Wnt-5a Protein

Supplementary concepts

  • Robinow Syndrome