Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes Academic Article Article uri icon

Overview

MeSH Major

  • Abnormalities, Multiple
  • Blepharophimosis
  • Chromosomes, Human, Pair 22
  • Ethnic Groups
  • Musculoskeletal Abnormalities
  • Scavenger Receptors, Class F

abstract

  • In summary, these data expand the mutational and phenotypic spectra of CYP1B1 to include two novel alleles and additional developmental ocular phenotypes. The contribution of CYP1B1 to POAG is less clear, but loss-of-function variants in CYP1B1, especially c.1064_1076del, p.(Arg355Hisfs*69), may be associated with an increased risk for POAG.

publication date

  • October 17, 2016

Research

keywords

  • Academic Article

Identity

PubMed ID

  • 27777502

Additional Document Info

start page

  • 1229

end page

  • 1238

volume

  • 22