Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

Am J Med Genet A. 2006 Mar 15;140(6):636-9. doi: 10.1002/ajmg.a.31114.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Alleles
  • Anophthalmos / pathology*
  • Base Sequence
  • DNA Mutational Analysis
  • Family Health
  • Fatal Outcome
  • Female
  • Fetal Death
  • Genotype
  • HMGB Proteins / genetics*
  • Humans
  • Infant
  • Male
  • Mosaicism*
  • Mothers
  • Mutation, Missense
  • Optic Nerve / abnormalities
  • Pedigree
  • Phenotype
  • SOXB1 Transcription Factors
  • Sex Chromosome Aberrations*
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • HMGB Proteins
  • SOX2 protein, human
  • SOXB1 Transcription Factors
  • Transcription Factors