Ontology highlight
ABSTRACT:
SUBMITTER: Toomes C
PROVIDER: S-EPMC1181948 | biostudies-literature | 2004 Apr
REPOSITORIES: biostudies-literature
American journal of human genetics 20040311 4
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Autosomal dominant FEVR is genetically heterogeneous, but its principal locus, EVR1, is on chromosome 11q13-q23. The gene encoding the Wnt receptor frizzled-4 (FZD4) was recently reported to be the EVR1 gene, but our mutation screen revealed fewer patients harboring mutations than expected. Here, we describe mutations in a second gene at the EVR1 locus, low-density-lipoprotein receptor-r ...[more]