Ontology highlight
ABSTRACT:
SUBMITTER: Jiao X
PROVIDER: S-EPMC1182117 | biostudies-literature | 2004 Nov
REPOSITORIES: biostudies-literature
Jiao Xiaodong X Ventruto Valerio V Trese Michael T MT Shastry Barkur S BS Hejtmancik J Fielding JF
American journal of human genetics 20040902 5
Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder that affects both the retina and vitreous body. Autosomal recessive FEVR was diagnosed in multiple individuals from three consanguineous families of European descent. A candidate-locus-directed genome scan shows linkage to the region on chromosome 11q flanked by markers D11S905 and D11S1314. The maximum LOD score of 3.6 at theta =0 is obtained with marker D11S987. Haplotype analysis confirms that the critical region is the ...[more]