Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia

Am J Med Genet A. 2004 Aug 15;129A(1):92-4. doi: 10.1002/ajmg.a.30126.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Anophthalmos / genetics*
  • Anophthalmos / pathology
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 14 / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genotype
  • Haplotypes
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Microphthalmos / genetics*
  • Microphthalmos / pathology
  • Molecular Sequence Data
  • Mutation, Missense
  • Pedigree
  • Phenotype
  • Sequence Homology, Amino Acid
  • Trans-Activators / genetics*

Substances

  • Homeodomain Proteins
  • SIX6 protein, human
  • Trans-Activators
  • DNA