Aplasia cutis congenita of the scalp in a female infant with anophthalmia/microphthalmia-esophageal atresia syndrome negative for SOX2 mutation

Am J Med Genet A. 2013 May;161A(5):1189-93. doi: 10.1002/ajmg.a.35854. Epub 2013 Mar 5.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Ectodermal Dysplasia / complications*
  • Ectodermal Dysplasia / genetics
  • Esophageal Atresia / complications*
  • Esophageal Atresia / genetics
  • Female
  • Humans
  • Infant
  • Microphthalmos / complications*
  • Microphthalmos / genetics
  • Mutation
  • Nervous System Malformations / complications*
  • Nervous System Malformations / genetics
  • SOXB1 Transcription Factors / genetics*
  • Scalp / pathology*

Substances

  • SOX2 protein, human
  • SOXB1 Transcription Factors

Supplementary concepts

  • Microphthalmia, Syndromic 3