First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

J Med Genet. 2005 Jan;42(1):e4. doi: 10.1136/jmg.2004.023416.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anencephaly / embryology
  • Anencephaly / pathology*
  • Eye Proteins / genetics*
  • Family
  • Female
  • Genotype
  • Homeobox Protein SIX3
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Mutation*
  • Mutation, Missense
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Phenotype
  • Pregnancy
  • Prosencephalon / abnormalities*
  • Prosencephalon / embryology

Substances

  • Eye Proteins
  • Homeodomain Proteins
  • Nerve Tissue Proteins