Mutational screening of FOXE3, GDF3, ATOH7, and ALDH1A3 in congenital ocular malformations. Possible contribution of the FOXE3 p.VAL201MET variant to the risk of severe eye malformations

Ophthalmic Genet. 2014 Sep;35(3):190-2. doi: 10.3109/13816810.2014.903983. Epub 2014 Apr 1.
No abstract available

Publication types

  • Letter

MeSH terms

  • Aldehyde Oxidoreductases / genetics
  • Alleles
  • Basic Helix-Loop-Helix Transcription Factors / genetics
  • Case-Control Studies
  • DNA Mutational Analysis
  • Eye Abnormalities / genetics*
  • Forkhead Transcription Factors / genetics*
  • Growth Differentiation Factor 3 / genetics
  • Humans
  • Mutation*
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA

Substances

  • ATOH7 protein, human
  • Basic Helix-Loop-Helix Transcription Factors
  • FOXE3 protein, human
  • Forkhead Transcription Factors
  • GDF3 protein, human
  • Growth Differentiation Factor 3
  • Aldehyde Oxidoreductases
  • aldehyde dehydrogenase (NAD(P)+)