Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia

Am J Med Genet A. 2004 Dec 1;131(2):204. doi: 10.1002/ajmg.a.30180.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 3*
  • Esophageal Atresia / genetics*
  • Female
  • HMGB Proteins / genetics*
  • Humans
  • Microphthalmos / genetics*
  • Pregnancy
  • SOXB1 Transcription Factors
  • Transcription Factors / genetics*

Substances

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