Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity

Hum Mutat. 2016 Jul;37(7):621. doi: 10.1002/humu.23016.
No abstract available

Publication types

  • Comment

MeSH terms

  • Facies
  • Genetic Heterogeneity
  • Hernia, Diaphragmatic*
  • Humans
  • Limb Deformities, Congenital*
  • Mutation

Supplementary concepts

  • Fryns syndrome