CGH array for the identification of a compound heterozygous mutation in the CYP1B1 gene in a patient with bilateral anterior segment dysgenesis

Clin Chem Lab Med. 2019 Mar 26;57(4):e63-e66. doi: 10.1515/cclm-2017-1106.
No abstract available

Keywords: CYP1B1; anterior segment dysgenesis (ASD); array comparative genomic hybridization (a-CGH).

Publication types

  • Letter

MeSH terms

  • Anterior Eye Segment*
  • Comparative Genomic Hybridization*
  • Cytochrome P-450 CYP1B1 / deficiency
  • Cytochrome P-450 CYP1B1 / genetics*
  • Heterozygote
  • Humans
  • Mutation

Substances

  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1