PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents

Clin Genet. 2012 Mar;81(3):294-7. doi: 10.1111/j.1399-0004.2011.01730.x. Epub 2011 Dec 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Consanguinity
  • Ear, External / abnormalities
  • Ear, External / pathology
  • Female
  • Heterozygote
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant, Newborn
  • Jaw Abnormalities / genetics*
  • Jaw Abnormalities / pathology
  • Male
  • Microstomia / genetics*
  • Microstomia / pathology
  • Mutation*

Substances

  • Homeodomain Proteins
  • PRRX1 protein, human

Supplementary concepts

  • Agnathia-microstomia-synotia