Ontology highlight
ABSTRACT:
SUBMITTER: Shimizu S
PROVIDER: S-EPMC1249494 | biostudies-literature | 2004 Nov
REPOSITORIES: biostudies-literature
Shimizu Satoko S Krafchak Charles C Fuse Nobuo N Epstein Michael P MP Schteingart Miriam T MT Sugar Alan A Eibschitz-Tsimhoni Maya M Downs Catherine A CA Rozsa Frank F Trager Edward H EH Reed David M DM Boehnke Michael M Moroi Sayoko E SE Richards Julia E JE
American journal of medical genetics. Part A 20041101 4
Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency and sometimes glaucoma. We mapped a new locus responsible for PPCD in a family in which we excluded the previously reported PPCD locus on 20q11, and the region containing COL8A2 on chromosome 1. Results of a 317-marker genome scan provided significant evidence of linkage of PPCD to markers on chromoso ...[more]