Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation

Am J Med Genet A. 2014 May;164A(5):1322-7. doi: 10.1002/ajmg.a.36008. Epub 2014 Mar 25.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Alleles
  • Alopecia / genetics
  • Brain / pathology
  • Child, Preschool
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Female
  • Genetic Loci
  • Homozygote*
  • Humans
  • Hypertelorism / genetics
  • Magnetic Resonance Imaging
  • Mutation*
  • Pedigree
  • Phenotype
  • Skin / pathology
  • Skull / abnormalities
  • Skull / diagnostic imaging
  • Tomography, X-Ray Computed
  • Transcription Factors / genetics*

Substances

  • ALX4 protein, human
  • DNA-Binding Proteins
  • Transcription Factors