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Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus.
A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.
Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles.
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.
CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.
Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia.
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.