@article{75f0f569d56b465bb13f70a7ba0e5f64,
title = "Absence of NR2E1 mutations in patients with aniridia",
abstract = "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 microphthalmia).",
keywords = "3' Untranslated Regions, 5' Untranslated Regions, Adult, Aniridia, Case-Control Studies, Child, Child, Preschool, DNA Mutational Analysis, Eye Abnormalities, Eye Proteins, Female, Genetic Testing, Humans, Male, Microphthalmos, Mutation, Open Reading Frames, Optic Nerve, Polymorphism, Single Nucleotide, Receptors, Cytoplasmic and Nuclear",
author = "Ximena Corso-D{\'i}az and Borrie, {Adrienne E} and Russell Bonaguro and Schuetz, {Johanna M} and Thomas Rosenberg and Hanne Jensen and Brooks, {Brian P} and Macdonald, {Ian M} and Francesca Pasutto and Walter, {Michael A} and Karen Gr{\o}nskov and Angela Brooks-Wilson and Simpson, {Elizabeth M}",
year = "2012",
language = "English",
volume = "18",
pages = "2770--82",
journal = "Molecular Vision",
issn = "1090-0535",
publisher = "Molecular Vision",
}