Article
Absence of NR2E1 mutations in patients with aniridia.
Molecular vision - 1 Jan 2012
Corso-Díaz Ximena, Borrie Adrienne E, Bonaguro Russell, Schuetz Johanna M, Rosenberg Thomas, Jensen Hanne, Brooks Brian P, Macdonald Ian M, Pasutto Francesca, Walter Michael A, Grønskov Karen, Brooks-Wilson Angela, Simpson Elizabeth M
Abstract excerpt
PURPOSE: Nuclear receptor 2E1 (NR2E1) is a transcription factor with many roles during eye development and thus may be responsible for the occurrence of certain congenital eye disorders in humans. To test this hypothesis, we screened NR2E1 for candidate mutations in patients with aniridia and other congenital ocular malformations (anterior segment dysgenesis, congenital optic nerve malformation, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.