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

Laurence Faivre, Kathleen A Williamson, Valérie Faber, Nicole Laurent, Marianne Grimaldi, Christel Thauvin-Robinet, Christine Durand, Francine Mugneret, Jean-Bernard Gouyon, Alain Bron, Frédéric Huet, Caroline Hayward, Veronica van Heyningen, David R Fitzpatrick

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)636-9
Number of pages4
JournalAmerican Journal of Medical Genetics Part A
Volume140
Issue number6
DOIs
Publication statusPublished - 15 Mar 2006

Keywords

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

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