Ontology highlight
ABSTRACT:
SUBMITTER: Alur RP
PROVIDER: S-EPMC2832668 | biostudies-literature | 2010 Mar
REPOSITORIES: biostudies-literature
Alur Ramakrishna P RP Vijayasarathy Camasamudram C Brown Jacob D JD Mehtani Mohit M Onojafe Ighovie F IF Sergeev Yuri V YV Boobalan Elangovan E Jones Marypat M Tang Ke K Liu Haiquan H Xia Chun-Hong CH Gong Xiaohua X Brooks Brian P BP
PLoS genetics 20100305 3
Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an autosomal dominant disease characterized by potentially-blinding congenital optic nerve excavation and congenital kidney abnormalities. Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Although most mutations in PAX2 are predicted to result in complete loss of one allele's function, three missense mutations have been reported, raising the possibility that more subtle alterations in PA ...[more]