Ontology highlight
ABSTRACT:
SUBMITTER: Ostergaard E
PROVIDER: S-EPMC2976051 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
Ostergaard E E Batbayli M M Duno M M Vilhelmsen K K Rosenberg T T
Journal of medical genetics 20100830 10
<h4>Background</h4>Cone-rod dystrophy is a retinal dystrophy with early loss of cone photoreceptors and a parallel or subsequent loss of rod photoreceptors. It may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or X-linked recessive inheritance.<h4>Methods and results</h4>We identified a small consanguineous family with six patients with cone-rod dystrophy from the Faroe Islands. Homozygosity mapping revealed a single homozygous locus of 4.2 Mb on chr ...[more]