PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT)

Ann Lab Med. 2018 May;38(3):283-286. doi: 10.3343/alm.2018.38.3.283.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anterior Eye Segment / abnormalities*
  • Base Sequence
  • DNA Mutational Analysis
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / genetics
  • Eye Diseases, Hereditary / diagnosis*
  • Eye Diseases, Hereditary / genetics
  • Female
  • Gene Deletion
  • Homeobox Protein PITX2
  • Homeodomain Proteins / genetics*
  • Humans
  • Middle Aged
  • Pedigree
  • Republic of Korea
  • Transcription Factors / genetics*
  • Young Adult

Substances

  • Homeodomain Proteins
  • Transcription Factors

Supplementary concepts

  • Axenfeld-Rieger syndrome