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One or more keywords matched the following items that are connected to Engle, Elizabeth
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Academic Article Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
Academic Article Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus.
Academic Article A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.
Academic Article Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.
Academic Article Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles.
Academic Article Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.
Academic Article Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.
Academic Article CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.
Academic Article Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia.
Academic Article KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
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Academic Article Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.