Ontology highlight
ABSTRACT:
SUBMITTER: Lauderdale JD
PROVIDER: S-EPMC17648 | biostudies-literature | 2000 Dec
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20001201 25
Aniridia is a panocular human eye malformation caused by heterozygous null mutations within PAX6, a paired-box transcription factor, or cytogenetic deletions of chromosome 11p13 that encompass PAX6. Chromosomal rearrangements also have been described that disrupt 11p13 but spare the PAX6 transcription unit in two families with aniridia. These presumably cause a loss of gene expression, by removing positive cis regulatory elements or juxtaposing negative DNA sequences. We report two submicroscopi ...[more]